All Phenotypes Myl2<tm1(cre)Krc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Myl2^tm1(cre)Krc
targeted mutation 1, Kenneth R Chien
MGI:2385922

Summary

41 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Egln1^tm1.1Brei/Egln1^tm1.1Brei Myl2^tm1(cre)Krc/Myl2⁺	B6.Cg-Myl2^tm1(cre)Krc Egln1^tm1.1Brei	MGI:4948937
cn2	Myl2^tm1(cre)Krc/Myl2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc	either: (involves: 129/Sv * Black Swiss) or (involves: 129/Sv * C57BL/6)	MGI:3043007
cn3	Hcn4^tm1Jsr/Hcn4^tm1Jsr Myl2^tm1(cre)Krc/Myl2⁺	involves: 129	MGI:2684589
cn4	Dsp^tm1Efu/Dsp^tm1Efu Myl2^tm1(cre)Krc/Myl2⁺	involves: 129 * 129S4/SvJae * C57BL/6	MGI:5660416
cn5	Vdr^tm1.1Sgcg/Vdr^tm1.2Sgcg Myl2^tm1(cre)Krc/Myl2⁺	involves: 129 * C57BL/6 * CBA * SJL	MGI:5461535
cn6	Erbb2^tm1Cbm/Erbb2^tm2Cbm Myl2^tm1(cre)Krc/Myl2⁺	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:3621567
cn7	Myl2^tm1(cre)Krc/Myl2⁺ Ptk2^tm1.1Guan/Ptk2^tm1.1Guan	involves: 129P2/OlaHsd * 129S4/SvJae	MGI:3689728
cn8	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^tm2Soff Myl2^tm1(cre)Krc/Myl2⁺	involves: 129P2/OlaHsd * 129S4/SvJae * 129S7/SvEvBrd * C57BL	MGI:3706996
cn9	Atp2a2^tm1.1Iemr/Atp2a2⁺ Myl2^tm1(cre)Krc/Myl2⁺	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6Crl * C57BL/6J	MGI:4415177
cn10	Myl2^tm1(cre)Krc/Myl2⁺ Txnrd2^tm1Marc/Txnrd2^tm1.1Marc	involves: 129P2/OlaHsd * C57BL/6	MGI:3512422
cn11	Myl2^tm1(cre)Krc/Myl2⁺ Txnrd1^tm1Marc/Txnrd1^tm1.1Marc	involves: 129P2/OlaHsd * C57BL/6J	MGI:3574776
cn12	Dag1^tm2Kcam/Dag1^tm2Kcam Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:4946226
cn13	Ldb3^tm4Chen/Ldb3^tm4Chen Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss	MGI:3832389
cn14	Itgb1^tm1Ross/Itgb1^tm1Ross Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss	MGI:2656180
cn15	Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:4418481
cn16	Erbb4^tm1Htig/Erbb4^tm1Htig Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3607168
cn17	Pak1^tm1.1Xwg/Pak1^tm1.1Xwg Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5470080
cn18	Mfn2^tm1.1Mzhe/Mfn2^tm1.1Mzhe Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J	MGI:5445201
cn19	Cacnb2^tm1Mfre/Cacnb2^tm1.1Mfre Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N	MGI:3762360
cn20	Tg(Myh6-GFP,MAP2K6)8Ywa/? Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3581052
cn21	Tg(Myh6-GFP,MAP2K3)58Ywa/? Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3581048
cn22	Lims1^tm1.1Chen/Lims1^tm1.1Chen Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:3577523
cn23	Erbb2^tm1Klee/Erbb2^tm1Klee Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S4/SvJae	MGI:3621642
cn24	Myl2^tm1(cre)Krc/Myl2⁺ Srsf1^tm1Xdfu/Srsf1^tm1Xdfu	involves: 129S4/SvJae	MGI:3530447
cn25	Myl2^tm1(cre)Krc/Myl2⁺ Srsf2^tm1Xdfu/Srsf2^tm1Xdfu	involves: 129S4/SvJae	MGI:3037209
cn26	Myl2^tm1(cre)Krc/Myl2⁺ Slc8a1^tm1Kdp/Slc8a1^tm1Kdp	involves: 129S4/SvJae	MGI:3604781
cn27	Myl2^tm1(cre)Krc/Myl2⁺ Tsc1^tm1Djk/Tsc1^tm1Djk	involves: 129S4/SvJae	MGI:3588988
cn28	Myl2^tm1(cre)Krc/Myl2⁺ Sp4^tm2Krc/Sp4^tm2Krc	involves: 129S4/SvJae	MGI:3622077
cn29	F3^tm1Nmk/F3^tm1Nmk Myl2^tm1(cre)Krc/?	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:3826855
cn30	Mef2c^tm1Eno/Mef2c^tm1Jjs Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S4/SvJae * 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3613581
cn31	F3^tm1Nmk/F3^tm1Nmk Myl2^tm1(cre)Krc/? Tg(Myh6-F3)4Nmk/?	involves: 129S4/SvJae * 129S6/SvEvTac * BALB/c * C57BL/6	MGI:3826858
cn32	Myl2^tm1(cre)Krc/Myl2⁺ Rxra^tm1Krc/Rxra^tm1Krc	involves: 129S4/SvJae * Black Swiss	MGI:3620763
cn33	Myl2^tm1(cre)Krc/Myl2⁺ Vcl^tm1Ross/Vcl^tm1Ross	involves: 129S4/SvJae * Black Swiss * C57BL/6 * SJL	MGI:3769166
cn34	Gt(ROSA)26Sor^{tm1(Cdkn1c)Jfpa}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:5492393
cn35	Atp1b1^tm1.1Akra/Atp1b1^tm1.1Akra Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S/SvEv * 129S4/SvJae	MGI:4360206
cn36	Atg5^tm1Myok/Atg5^tm1Myok Myl2^tm1(cre)Krc/Myl2⁺	involves: 129S/SvEv * 129S4/SvJae	MGI:3713112
cn37	Fgfr1^tm1Upir/Fgfr1^tm1Upir Fgfr2^tm1Dor/Fgfr2^tm1Dor Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺	involves: 129/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3775280
cn38	Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺	involves: 129/Sv * 129S4/SvJae * C57BL/6	MGI:3775279
cn39	Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor} Myl2^tm1(cre)Krc/Myl2⁺	involves: 129/Sv * 129S4/SvJae * C57BL/6	MGI:3775278
cn40	Gja1^tm1Gfi/Gja1^tm1Gfi Myl2^tm1(cre)Krc/Myl2⁺	Not Specified	MGI:3051891
cn41	Myl2^tm1(cre)Krc/Myl2⁺ Pip5k1c^tm2Csab/Pip5k1c^tm2Csab	Not Specified	MGI:5496899

Allelic Composition	Egln1^tm1.1Brei/Egln1^tm1.1Brei Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	B6.Cg-Myl2^tm1(cre)Krc Egln1^tm1.1Brei

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egln1^tm1.1Brei mutation (0 available); any Egln1 mutation (22 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:170943 )

N	• mice exhibit normal cardiac response to increased afterload

abnormal coronary vessel morphology ( J:170943 )

• capillary area is increased compared to in wild-type hearts

• however, capillary number is normal

abnormal response to cardiac infarction ( J:170943 )

• following ligation of the left anterior descending artery, mice exhibit decreased area at risk, area of necrosis, apoptosis, and reduced decrease in fractional shortening compared with similarly treated wild-type mice

decreased myocardial infarct size ( J:170943 )

• following ligation of the left anterior descending artery, mice exhibit decreased area at risk and area of necrosis compared with similarly treated wild-type mice

homeostasis/metabolism

abnormal response to cardiac infarction ( J:170943 )

decreased myocardial infarct size ( J:170943 )

• following ligation of the left anterior descending artery, mice exhibit decreased area at risk and area of necrosis compared with similarly treated wild-type mice

muscle

decreased cardiomyocyte apoptosis ( J:170943 )

• following ligation of the left anterior descending artery

cellular

decreased cardiomyocyte apoptosis ( J:170943 )

• following ligation of the left anterior descending artery

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Nkx2-5^tm1Krc/Nkx2-5^tm1Krc
Genetic Background	either: (involves: 129/Sv * Black Swiss) or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Nkx2-5^tm1Krc mutation (0 available); any Nkx2-5 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:89404 )

• incomplete penetrance; mice were born at 78% of the expected rate

• pernatal lethality was reported to be more penetrant with contributions from the C57BL/6 genetic background

cardiovascular system

cardiovascular system phenotype ( J:89404 )

N	• no atrial or ventricular septal defects

abnormal impulse conducting system morphology ( J:89404 )

abnormal atrioventricular bundle morphology ( J:89404 )

• bundle of His was hypoplastic at birth

atrioventricular node hypoplasia ( J:89404 )

• atrioventricular (AV) node was hypoplastic at birth

abnormal myocardial fiber morphology ( J:89404 )

• loss of integrity and sarcomeric structure in conduction system cardiomyocytes

• surrounding, non-conducting, cardiomyoctes were unaffected

myocardial ventricular hypertrabeculation ( J:89404 )

• hypertrabeculation; trabecular muscle overgrowth, filling the left ventricle

cardiac hypertrophy ( J:89404 )

cardiac interstitial fibrosis ( J:89404 )

dilated cardiomyopathy ( J:89404 )

atrioventricular block ( J:89404 )

• progressive AV block associated with cardiomyocyte dropout and fibrosis in the central conduction system

homeostasis/metabolism

hydrops fetalis ( J:89404 )

• fetuses that died prior to birth were edematous, suggesting circulatory failure

muscle

abnormal impulse conducting system morphology ( J:89404 )

abnormal atrioventricular bundle morphology ( J:89404 )

• bundle of His was hypoplastic at birth

atrioventricular node hypoplasia ( J:89404 )

• atrioventricular (AV) node was hypoplastic at birth

abnormal myocardial fiber morphology ( J:89404 )

• loss of integrity and sarcomeric structure in conduction system cardiomyocytes

• surrounding, non-conducting, cardiomyoctes were unaffected

myocardial ventricular hypertrabeculation ( J:89404 )

• hypertrabeculation; trabecular muscle overgrowth, filling the left ventricle

dilated cardiomyopathy ( J:89404 )

growth/size/body

cardiac hypertrophy ( J:89404 )

cellular

cardiac interstitial fibrosis ( J:89404 )

Allelic Composition	Hcn4^tm1Jsr/Hcn4^tm1Jsr Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcn4^tm1Jsr mutation (0 available); any Hcn4 mutation (67 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:86988 )

• homozygous embryos die between E9.5 and E11.5

Allelic Composition	Dsp^tm1Efu/Dsp^tm1Efu Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsp^tm1Efu mutation (1 available); any Dsp mutation (136 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:205990 )

• high doses of epinephrine in combination with exercise can induce sudden cardiac death in mutants that is not seen in controls

premature death ( J:205990 )

• susceptibility to postnatal lethality from 1 month of age onwards, with 50% dying within 2 months of age and 100% mortality by 5 months of age

cardiovascular system

abnormal heart morphology ( J:205990 )

• fatty deposition is seen in the subepicardium, mid-wall region of hearts and in the left ventricle

abnormal myocardium layer morphology ( J:205990 )

• in severely affected regions, hearts show some loss of muscle architecture

abnormal myocardial fiber morphology ( J:205990 )

• rupture of desmosomes and loss of myocyte-myocyte adhesion between neighboring cells as indicated by intercellular gaps in hearts

abnormal intercalated disk morphology ( J:205990 )

• defects in intercalated disc integrity as early as 2.5 weeks of age

increased heart atrium size ( J:205990 )

abnormal subendocardium layer morphology ( J:205990 )

• pronounced pockets of fat deposition are seen within the subepicardium of hearts from 6 week old mice

enlarged heart ( J:205990 )

• 4 week old mice exhibit enlarged hearts

dilated heart ventricle ( J:205990 )

• right and left ventricular chamber dilation in 4 week old mice which is more pronounced in the right ventricle

cardiac fibrosis ( J:205990 )

• extensive fibrosis in the heart, seen in the right and left ventricles and in the septum, but not in the atria

decreased heart ventricle muscle contractility ( J:205990 )

• mice exhibit increased end-diastolic and end-systolic volumes, reduced ejection fraction, and reduced wall thickness in both the right and left ventricle indicating biventricular dilation and depressed systolic function

irregular heartbeat ( J:205990 )

• mice exhibit ventricular arrhythmias that are exacerbated with exercise and catecholamine stimulation

• however, mice exhibit normal heart rate

ventricular premature beat ( J:205990 )

• spontaneous ectopic premature ventricular contractions

abnormal impulse conducting system conduction ( J:205990 )

• epicardial pattern of action potential propagation following ventricular epicardial pacing shows that mutant hearts display pronounced conduction breaks in wavefront propagation within the epicardium

• analysis of action potential propagation in hearts shows prolonged activation time, action potential durations, and action potential dispersion

bundle branch block ( J:205990 )

• hearts exhibit delayed conduction in the right ventricle following atrial pacing, consistent with right bundle branch block

prolonged QRS complex duration ( J:205990 )

• increase in QRS intervals, suggestive of ventricular depolarization delay

ventricular cardiomyopathy ( J:205990 )

• mice exhibit a severe form of ventricular cardiomyopathy similar to a biventricular form of arrhythmogenic right ventricular cardiomyopathy

cellular

increased apoptosis ( J:205990 )

• hearts show an increase in TUNEL+ cells in the cardiac mid-wall and in the subepicardial region of the heart, indicating increased apoptosis

muscle

abnormal myocardium layer morphology ( J:205990 )

• in severely affected regions, hearts show some loss of muscle architecture

abnormal myocardial fiber morphology ( J:205990 )

• rupture of desmosomes and loss of myocyte-myocyte adhesion between neighboring cells as indicated by intercellular gaps in hearts

abnormal intercalated disk morphology ( J:205990 )

• defects in intercalated disc integrity as early as 2.5 weeks of age

decreased heart ventricle muscle contractility ( J:205990 )

ventricular cardiomyopathy ( J:205990 )

• mice exhibit a severe form of ventricular cardiomyopathy similar to a biventricular form of arrhythmogenic right ventricular cardiomyopathy

abnormal Z line morphology ( J:205990 )

• loss or thickening of Z-lines in severely affected regions of the heart

growth/size/body

enlarged heart ( J:205990 )

• 4 week old mice exhibit enlarged hearts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular dysplasia 8		DOID:0110076	OMIM:607450	J:205990

Allelic Composition	Vdr^tm1.1Sgcg/Vdr^tm1.2Sgcg Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129 * C57BL/6 * CBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Vdr^tm1.1Sgcg mutation (0 available); any Vdr mutation (36 available)
Vdr^tm1.2Sgcg mutation (0 available); any Vdr mutation (36 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:189471 )

N	• untreated and isoflurane-treated mice exhibit normal left ventricular systolic and diastolic function

increased myocardial fiber size ( J:189471 )

• in untreated and isoflurane-treated mice

cardiac hypertrophy ( J:189471 )

• in untreated and isoflurane-treated mice

abnormal heart ventricle morphology ( J:189471 )

• untreated and isoflurane-treated mice exhibit a reduction in end-diastolic volume and end-systolic volume compared with control mice

thick interventricular septum ( J:189471 )

• in untreated and isoflurane-treated mice

increased heart left ventricle weight ( J:189471 )

• in untreated and isoflurane-treated mice

thick ventricular wall ( J:189471 )

• untreated and isoflurane-treated mice exhibit increased thickness of the posterior left ventricular free wall compared with control mice

decreased mean systemic arterial blood pressure ( J:189471 )

decreased systemic arterial diastolic blood pressure ( J:189471 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:189471 )

N	• unlike null homozygotes, mice are not hypocalcemic

increased circulating atrial natriuretic factor ( J:189471 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:189471 )

N	• unlike null homozygotes, mice do not develop hyperparathyroidism

muscle

increased myocardial fiber size ( J:189471 )

• in untreated and isoflurane-treated mice

growth/size/body

cardiac hypertrophy ( J:189471 )

• in untreated and isoflurane-treated mice

Allelic Composition	Erbb2^tm1Cbm/Erbb2^tm2Cbm Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2^tm1Cbm mutation (0 available); any Erbb2 mutation (61 available)
Erbb2^tm2Cbm mutation (0 available); any Erbb2 mutation (61 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:77347 )

• 27% die before reaching 6 months of age and 20% die during echochardiographic or ECG examination

postnatal lethality, incomplete penetrance ( J:77347 )

• 16% die within the first 2 weeks, the rest reach adulthood

cardiovascular system

abnormal myocardial fiber morphology ( J:77347 )

• adults and 3 month old mice exhibit myofiber hypertrophy

• frequently observe enlarged cardiomyocyte nuclei with abnormal morphology

cardiac hypertrophy ( J:77347 )

• heart-to-body weight ratios of adults are increased by 26%, indicative of hypertrophy

increased heart ventricle size ( J:77347 )

• adults exhibit enlarged ventricular chambers

thin ventricular wall ( J:77347 )

• seen in adults

dilated cardiomyopathy ( J:77347 )

• progressive malfunction of the heart

decreased heart ventricle muscle contractility ( J:77347 )

• at 3 months of age, ventricular diameter is increased and fractional shortening is impaired

• hearts do not compensate after aortic banding but display a further decrease in fractional shortening

decreased heart left ventricle muscle contractility ( J:77347 )

• at 1 month of age, see dilatation and loss of left ventricle contractility

prolonged QT interval ( J:77347 )

• significantly lengthened QT_c interval caused by a slowed ventricular repolarization

muscle

abnormal myocardial fiber morphology ( J:77347 )

• adults and 3 month old mice exhibit myofiber hypertrophy

• frequently observe enlarged cardiomyocyte nuclei with abnormal morphology

dilated cardiomyopathy ( J:77347 )

• progressive malfunction of the heart

decreased heart ventricle muscle contractility ( J:77347 )

• at 3 months of age, ventricular diameter is increased and fractional shortening is impaired

• hearts do not compensate after aortic banding but display a further decrease in fractional shortening

decreased heart left ventricle muscle contractility ( J:77347 )

• at 1 month of age, see dilatation and loss of left ventricle contractility

growth/size/body

cardiac hypertrophy ( J:77347 )

• heart-to-body weight ratios of adults are increased by 26%, indicative of hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:77347

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Ptk2^tm1.1Guan/Ptk2^tm1.1Guan
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Ptk2^tm1.1Guan mutation (1 available); any Ptk2 mutation (91 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

abnormal myocardium layer morphology ( J:105371 )

abnormal myocardial fiber morphology ( J:105371 )

• cardiomyocytes of older mutants (9 months of age) exhibit increased length but not width

disorganized myocardium ( J:105371 )

• myocardium of older mutants (9 months of age) shows disorganized myofibrils with increased nonmyofibrillar space filled with swelled mitochondria

cardiac hypertrophy ( J:105371 )

• develop eccentric cardiac hypertrophy (normal left ventricle wall thickness and increased left chamber dimension) upon stimulation with angiotensin II or pressure overload by transverse aortic constriction, exhibiting an increase in heart/body weight ratios and elevated markers of cardiac hypertrophy

dilated heart left ventricle ( J:105371 )

• older mutants develop spontaneous cardiac chamber dilation

cardiac interstitial fibrosis ( J:105371 )

• develop multifocal interstitial fibrosis upon stimulation with angiotensin II

muscle

abnormal myocardium layer morphology ( J:105371 )

abnormal myocardial fiber morphology ( J:105371 )

• cardiomyocytes of older mutants (9 months of age) exhibit increased length but not width

disorganized myocardium ( J:105371 )

• myocardium of older mutants (9 months of age) shows disorganized myofibrils with increased nonmyofibrillar space filled with swelled mitochondria

growth/size/body

cardiac hypertrophy ( J:105371 )

cellular

cardiac interstitial fibrosis ( J:105371 )

• develop multifocal interstitial fibrosis upon stimulation with angiotensin II

Allelic Composition	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^tm2Soff Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * 129S7/SvEvBrd * C57BL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gna11^tm1Soff mutation (0 available); any Gna11 mutation (25 available)
Gnaq^tm2Soff mutation (0 available); any Gnaq mutation (24 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:77461 )

• about 75% die perinatally

cardiovascular system

heart hypoplasia ( J:77461 )

• pups that die perinatally exhibit varying degrees of myocardial hypoplasia

• however, mutants that survive to adulthood, appear normal and are fertile

decreased response of heart to induced stress ( J:77461 )

• homozygotes surviving to adulthood exhibit no ventricular hypertrophy in response to pressure-overload induced by aortic constriction, indicating a complete lack of a hypertrophic response

homeostasis/metabolism

decreased response of heart to induced stress ( J:77461 )

• homozygotes surviving to adulthood exhibit no ventricular hypertrophy in response to pressure-overload induced by aortic constriction, indicating a complete lack of a hypertrophic response

Allelic Composition	Atp2a2^tm1.1Iemr/Atp2a2⁺ Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6Crl * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp2a2^tm1.1Iemr mutation (0 available); any Atp2a2 mutation (76 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:155628 )

N	• mice exhibit normal heart weight and cardiac function

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Txnrd2^tm1Marc/Txnrd2^tm1.1Marc
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Txnrd2^tm1.1Marc mutation (0 available); any Txnrd2 mutation (18 available)
Txnrd2^tm1Marc mutation (0 available); any Txnrd2 mutation (18 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:94136 )

• mutants die within several hours after birth

cardiovascular system

liver vascular congestion ( J:94136 )

• liver congestion

abnormal myocardial fiber morphology ( J:94136 )

• myocardial cells are severely distorted with pycnotic nuclei, cytoplasmic vacuolization, reduced cross-striation, and swollen or destroyed mitochondrial cristae

dilated heart atrium ( J:94136 )

globular heart ( J:94136 )

• globular heart shape

thin ventricular wall ( J:94136 )

congestive heart failure ( J:94136 )

• mutants show clinical features of congestive heart failure

homeostasis/metabolism

edema ( J:94136 )

liver/biliary system

liver vascular congestion ( J:94136 )

• liver congestion

muscle

abnormal myocardial fiber morphology ( J:94136 )

• myocardial cells are severely distorted with pycnotic nuclei, cytoplasmic vacuolization, reduced cross-striation, and swollen or destroyed mitochondrial cristae

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Txnrd1^tm1Marc/Txnrd1^tm1.1Marc
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Txnrd1^tm1.1Marc mutation (0 available); any Txnrd1 mutation (49 available)
Txnrd1^tm1Marc mutation (1 available); any Txnrd1 mutation (49 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:96818 )

N	• no differences in heart shape or in the cellular morphology of cardiomyocytes

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

myocardial fiber degeneration ( J:169951 )

• myocardial cell degeneration marked by eosinophilic myocytes, infiltration of mononuclear cells and significant focal collagen deposition at 10 months of age

• mutants exhibit focal patches of cardiac myocyte membrane damage due to damage expansion of myocardial damage to neighboring myocytes, compared to controls that only show damage in individual myocytes

abnormal heart left ventricle wall thickness ( J:169951 )

• some hearts exhibit focal thinning of the left ventricular wall

cardiac fibrosis ( J:169951 )

• increase in cardiac fibrosis, with nearly 9% of the myocardium replaced with focal fibrotic tissue at 10 months of age

dilated cardiomyopathy ( J:169951 )

• mutants develop progressive dilated cardiomyopathy

• 65% increase in heart weight/body weight ratios

• ratio of the end diastolic volume to mass is increased, indicating dilation of chambers as opposed to increase in overall heart size

• first signs of cardiomyopathy are seen at 7 months of age, with mutants starting to show small focal areas of fibrosis

abnormal cardiac muscle contractility ( J:169951 )

• reduction in the left ventricular ejection fraction indicating impaired systolic function

muscle

myocardial fiber degeneration ( J:169951 )

• myocardial cell degeneration marked by eosinophilic myocytes, infiltration of mononuclear cells and significant focal collagen deposition at 10 months of age

dilated cardiomyopathy ( J:169951 )

• mutants develop progressive dilated cardiomyopathy

• 65% increase in heart weight/body weight ratios

• ratio of the end diastolic volume to mass is increased, indicating dilation of chambers as opposed to increase in overall heart size

• first signs of cardiomyopathy are seen at 7 months of age, with mutants starting to show small focal areas of fibrosis

abnormal cardiac muscle contractility ( J:169951 )

• reduction in the left ventricular ejection fraction indicating impaired systolic function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:169951

Allelic Composition	Ldb3^tm4Chen/Ldb3^tm4Chen Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ldb3^tm4Chen mutation (0 available); any Ldb3 mutation (46 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:144739 )

• all die between 16 and 23 weeks of age

cardiovascular system

abnormal myocardial fiber morphology ( J:144739 )

• Z-lines in 3 month old mice are severely disrupted and disorganized and abnormal mitochondria are seen

• however M-lines are relatively normal

enlarged heart ( J:144739 )

• enlarged left and right ventricles

increased heart weight ( J:144739 )

• the ratios of heart weight to body weight and heart weight to tibia bone length are increased

cardiac hypertrophy ( J:144739 )

abnormal heart ventricle morphology ( J:144739 )

thin interventricular septum ( J:144739 )

• thinner at end diastole compared to controls

abnormal heart left ventricle morphology ( J:144739 )

• significant increase in left ventricular dimension at end diastole and end systole

• enlarged with a thinner wall

• increase in left ventricle size is seen in mice at 2 - 4 months of age but not at 1 month of age

abnormal heart right ventricle morphology ( J:144739 )

• enlarged with a thinner wall

thin ventricular wall ( J:144739 )

• in both the left and right ventricles

dilated cardiomyopathy ( J:144739 )

atrioventricular block ( J:144739 )

• electrocardiography reveals an atrioventricular block

muscle

abnormal myocardial fiber morphology ( J:144739 )

• Z-lines in 3 month old mice are severely disrupted and disorganized and abnormal mitochondria are seen

• however M-lines are relatively normal

dilated cardiomyopathy ( J:144739 )

growth/size/body

enlarged heart ( J:144739 )

• enlarged left and right ventricles

increased heart weight ( J:144739 )

• the ratios of heart weight to body weight and heart weight to tibia bone length are increased

cardiac hypertrophy ( J:144739 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1C		DOID:0110423	OMIM:601493	J:144739

Allelic Composition	Itgb1^tm1Ross/Itgb1^tm1Ross Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgb1^tm1Ross mutation (0 available); any Itgb1 mutation (60 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:82534 )

• after 7 days of aortic constriction, only 53% of mutants survive compared to 88% of controls

cardiovascular system

liver vascular congestion ( J:82534 )

• show liver congestion at about 6 months of age

abnormal myocardium layer morphology ( J:82534 )

• myocardium shows focal dissolution of myofibrils and intercalated disks as well as mitochondrial swelling, with disruption and loss of cristae

abnormal myocardial fiber morphology ( J:82534 )

• heart sections show disruption of myocyte cell membrane integrity

increased heart atrium size ( J:82534 )

• enlarged at around 6 months of age

abnormal heart ventricle morphology ( J:82534 )

• calcification within the ventricular wall at about 6 months of age

thick ventricular wall ( J:82534 )

• at 6 months of age

cardiac fibrosis ( J:82534 )

• adults develop patchy fibrosis in the ventricular wall

• hearts show replacement fibrosis at around 6 months of age

dilated heart ( J:82534 )

• dilation at about 6 months of age

dilated heart left ventricle ( J:82534 )

• at 6 months of age

dilated heart right ventricle ( J:82534 )

• at 6 months of age

dilated cardiomyopathy ( J:82534 )

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium

decreased heart left ventricle muscle contractility ( J:82534 )

• contractility of the left ventricle is impaired at 5 weeks of age, however left ventricular end-diastolic pressure and heart rate do not vary from controls

abnormal cardiac muscle relaxation ( J:82534 )

• relaxation of the left ventricle is impaired at 5 weeks of age

increased response of heart to induced stress ( J:82534 )

• hemodynamic loading imposed by 7 days of transverse aortic constriction shows that mutants are intolerant of this stress as they have 53% survival versus 88% in controls

congestive heart failure ( J:82534 )

• show signs of congestive heart failure when reach about 6 months of age, including pleural effusions and liver congestion

homeostasis/metabolism

increased response of heart to induced stress ( J:82534 )

• hemodynamic loading imposed by 7 days of transverse aortic constriction shows that mutants are intolerant of this stress as they have 53% survival versus 88% in controls

abnormal atrial thrombosis ( J:82534 )

• hearts show thrombi in enlarged atria at around 6 months of age

pleural effusion ( J:82534 )

• show pleural effusions at about 6 months of age

liver/biliary system

liver vascular congestion ( J:82534 )

• show liver congestion at about 6 months of age

muscle

abnormal myocardium layer morphology ( J:82534 )

• myocardium shows focal dissolution of myofibrils and intercalated disks as well as mitochondrial swelling, with disruption and loss of cristae

abnormal myocardial fiber morphology ( J:82534 )

• heart sections show disruption of myocyte cell membrane integrity

dilated cardiomyopathy ( J:82534 )

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium

decreased heart left ventricle muscle contractility ( J:82534 )

• contractility of the left ventricle is impaired at 5 weeks of age, however left ventricular end-diastolic pressure and heart rate do not vary from controls

abnormal cardiac muscle relaxation ( J:82534 )

• relaxation of the left ventricle is impaired at 5 weeks of age

respiratory system

pleural effusion ( J:82534 )

• show pleural effusions at about 6 months of age

cellular

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium

Allelic Composition	Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1a^tm3Rsjo mutation (3 available); any Hif1a mutation (50 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

abnormal coronary vessel morphology ( J:118455 )

• fewer blood vessels are present in the left ventricle compared to in wild-type mice

thick interventricular septum ( J:118455 )

• the diastolic thickness of the intraventricular septum is increased compared to in wild-type mice

cardiac hypertrophy ( J:118455 )

• mild

abnormal heart left ventricle morphology ( J:118455 )

• left ventricular end-diastolic diameter is reduced compared to in wild-type mice

increased heart left ventricle weight ( J:118455 )

increased heart left ventricle wall thickness ( J:118455 )

• the diastolic thickness of the left ventricle is increased compared to in wild-type mice

decreased cardiac muscle contractility ( J:118455 )

• mice exhibit reduced fractional shortening compared with wild-type mice

• during electrical stimulation, cardiomyocytes exhibit reduced cell shortening compared with wild-type cells

abnormal cardiac muscle relaxation ( J:118455 )

• dobutamine-treated mice exhibit increased isovolumic relaxation time, a measure of diastolic dysfunction, compared to in similarly treated wild-type mice

abnormal heart left ventricle pressure ( J:118455 )

• mice exhibit reduced maximum rates of left ventricular pressure development and pressure decline compared to in wild-type mice

abnormal myocardial fiber physiology ( J:118455 )

• cardiomyocytes exhibit prolonged time to reduce cytosolic calcium levels compared with wild-type cells

growth/size/body

cardiac hypertrophy ( J:118455 )

• mild

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:118455 )

• dobutamine-treated mice exhibit increased isovolumic relaxation time, a measure of diastolic dysfunction, compared to in similarly treated wild-type mice

muscle

decreased cardiac muscle contractility ( J:118455 )

• mice exhibit reduced fractional shortening compared with wild-type mice

• during electrical stimulation, cardiomyocytes exhibit reduced cell shortening compared with wild-type cells

abnormal cardiac muscle relaxation ( J:118455 )

• dobutamine-treated mice exhibit increased isovolumic relaxation time, a measure of diastolic dysfunction, compared to in similarly treated wild-type mice

Allelic Composition	Erbb4^tm1Htig/Erbb4^tm1Htig Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb4^tm1Htig mutation (0 available); any Erbb4 mutation (87 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:101252 )

• die within the first year of life

cardiovascular system

abnormal myocardial fiber morphology ( J:101252 )

• cardiomyocyte length is increased and they exhibit enlarged nuclei with a significantly higher rate of polyploidy at 3 months of age

• dilation of tubular membrane system in myocytes with normal myofibrils and mitochondria

abnormal intercalated disk morphology ( J:101252 )

• number of intercalated disks per unit area of ventricular muscle is reduced

decreased myocardial fiber number ( J:101252 )

• number of nuclei per unit area of ventricular muscle is reduced

enlarged heart ( J:101252 )

• exhibit higher heart-to-body weight ratios than wildtype at 3 months of age

cardiac hypertrophy ( J:101252 )

• hearts are enlarged, however observe no differences in cardiomyocyte cell number, proliferation or apoptosis

dilated heart left ventricle ( J:101252 )

• dilation evident by 3 months of age but is not seen in neonates

thin ventricular wall ( J:101252 )

• evident by 3 months of age

dilated heart right ventricle ( J:101252 )

• dilation evident by 3 months of age but is not seen in neonates

dilated cardiomyopathy ( J:101252 )

decreased heart left ventricle muscle contractility ( J:101252 )

• retrograde perfusion of the left ventricle in isolated hearts shows a reduction of the maximal left ventricular developed pressure, demonstrating depressed myocardial contractility

ventricular tachycardia ( J:101252 )

• programmed intracardiac stimulation shows increased susceptibility to ventricular tachycardia

abnormal impulse conducting system conduction ( J:101252 )

• ECG at 2-3 months of age shows widened QRS complex and Q-Tc intervals, indicating delayed conduction

prolonged QRS complex duration ( J:101252 )

• ECG at 2-3 months of age shows widened QRS complex

prolonged QT interval ( J:101252 )

• 12.5% prolongation in Q-Tc intervals

muscle

abnormal myocardial fiber morphology ( J:101252 )

• cardiomyocyte length is increased and they exhibit enlarged nuclei with a significantly higher rate of polyploidy at 3 months of age

• dilation of tubular membrane system in myocytes with normal myofibrils and mitochondria

abnormal intercalated disk morphology ( J:101252 )

• number of intercalated disks per unit area of ventricular muscle is reduced

decreased myocardial fiber number ( J:101252 )

• number of nuclei per unit area of ventricular muscle is reduced

dilated cardiomyopathy ( J:101252 )

decreased heart left ventricle muscle contractility ( J:101252 )

• retrograde perfusion of the left ventricle in isolated hearts shows a reduction of the maximal left ventricular developed pressure, demonstrating depressed myocardial contractility

growth/size/body

enlarged heart ( J:101252 )

• exhibit higher heart-to-body weight ratios than wildtype at 3 months of age

cardiac hypertrophy ( J:101252 )

• hearts are enlarged, however observe no differences in cardiomyocyte cell number, proliferation or apoptosis

Allelic Composition	Pak1^tm1.1Xwg/Pak1^tm1.1Xwg Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Pak1^tm1.1Xwg mutation (0 available); any Pak1 mutation (37 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

increased myocardial fiber size ( J:193804 )

• increased following transverse aortic constriction and prolonged load stress

• in response to Ang II infusion

increased heart weight ( J:193804 )

• following transverse aortic constriction and prolonged load stress

• in response to Ang II infusion

cardiac hypertrophy ( J:193804 )

• following transverse aortic constriction

• in response to Ang II infusion

• treatment with FTY720 does not blocked cardiac hypertrophy induced by transverse aortic constriction

cardiac fibrosis ( J:193804 )

• increased collagen-deposition following prolonged load stress

• in response to Ang II infusion

decreased cardiac muscle contractility ( J:193804 )

• following prolonged load stress

• in response to Ang II infusion

increased response of heart to induced stress ( J:193804 )

• following transverse aortic constriction, cardiomyocytes exhibit exacerbated pressure overload-induced hypertrophy and increased cardiomyocytes size and apoptosis compared with control mice

• prolonged load stress sensitizes mice to heart failure, pulmonary edema, reduced fractional shortening, increased heart weight, increased myocyte cross-sectional area and collagen deposition

• however, contractile performance is normal following limited transverse aortic contriction

congestive heart failure ( J:193804 )

• following prolonged load stress

respiratory system

pulmonary edema ( J:193804 )

• following prolonged load stress

cellular

increased cardiomyocyte apoptosis ( J:193804 )

• 5-fold increase following transverse aortic constriction

homeostasis/metabolism

increased response of heart to induced stress ( J:193804 )

• following transverse aortic constriction, cardiomyocytes exhibit exacerbated pressure overload-induced hypertrophy and increased cardiomyocytes size and apoptosis compared with control mice

• prolonged load stress sensitizes mice to heart failure, pulmonary edema, reduced fractional shortening, increased heart weight, increased myocyte cross-sectional area and collagen deposition

• however, contractile performance is normal following limited transverse aortic contriction

pulmonary edema ( J:193804 )

• following prolonged load stress

muscle

increased myocardial fiber size ( J:193804 )

• increased following transverse aortic constriction and prolonged load stress

• in response to Ang II infusion

decreased cardiac muscle contractility ( J:193804 )

• following prolonged load stress

• in response to Ang II infusion

increased cardiomyocyte apoptosis ( J:193804 )

• 5-fold increase following transverse aortic constriction

growth/size/body

increased heart weight ( J:193804 )

• following transverse aortic constriction and prolonged load stress

• in response to Ang II infusion

cardiac hypertrophy ( J:193804 )

• following transverse aortic constriction

• in response to Ang II infusion

• treatment with FTY720 does not blocked cardiac hypertrophy induced by transverse aortic constriction

Allelic Composition	Mfn2^tm1.1Mzhe/Mfn2^tm1.1Mzhe Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2^tm1.1Mzhe mutation (0 available); any Mfn2 mutation (27 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Autophagosome accumulation in Mfn2^tm1.1Mzhe/Mfn2^tm1.1Mzhe Myl2^tm1(cre)Krc/Myl2⁺ hearts

cardiovascular system

abnormal myocardial fiber morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with cells from control mice

• cardiomyocytes contain large numbers of double and multimembrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• cardiomyocytes exhibit endoplasmic reticulum stress unlike cells from control mice

• however, cardiomyocytes exhibit normal mitochondrial mass and autophagosome formation

decreased heart ventricle muscle contractility ( J:188865 )

• beginning at 17 months of age

increased fetal cardiomyocyte apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

abnormal myocardial fiber physiology ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

increased response of heart to induced stress ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• worse at 12 months of age with increased cardiomyocytes apoptosis

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

cellular

increased fetal cardiomyocyte apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

abnormal mitochondrial morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with control mice

• however, mitochondrial mass is normal

abnormal autophagy ( J:188865 )

• cardiomyocytes contain large numbers of double and multi-membrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• however, autophagosome formation is normal

abnormal cellular respiration ( J:188865 )

• decreased respiratory control ration in the cardiomyocytes

pigmentation

lipofuscinosis ( J:188865 )

• in the heart

muscle

abnormal myocardial fiber morphology ( J:188865 )

• cardiomyocytes exhibit increased numbers of large mitochondria and average size of mitochondrial area compared with cells from control mice

• cardiomyocytes contain large numbers of double and multimembrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• cardiomyocytes exhibit endoplasmic reticulum stress unlike cells from control mice

• however, cardiomyocytes exhibit normal mitochondrial mass and autophagosome formation

decreased heart ventricle muscle contractility ( J:188865 )

• beginning at 17 months of age

increased fetal cardiomyocyte apoptosis ( J:188865 )

• at 12 months following ischemia-reperfusion stress

homeostasis/metabolism

increased response of heart to induced stress ( J:188865 )

• following ischemia-reperfusion stress, cardiomyocytes from 6 month old mice exhibit a greater loss of mitochondrial membrane potential compared with cells from control mice

• worse at 12 months of age with increased cardiomyocytes apoptosis

• however, mitochondrial membrane potential is normal at 4 months following ischemia-reperfusion stress

abnormal autophagy ( J:188865 )

• cardiomyocytes contain large numbers of double and multi-membrane autophagosome-like vacuolar structures and increased autophagic activity compared with cells from control mice

• cardiomyocytes exhibit impaired autophagosome-lysosome fusion compared with cells from control mice

• however, autophagosome formation is normal

Allelic Composition	Cacnb2^tm1Mfre/Cacnb2^tm1.1Mfre Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6N * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacnb2^tm1.1Mfre mutation (0 available); any Cacnb2 mutation (50 available)
Cacnb2^tm1Mfre mutation (0 available); any Cacnb2 mutation (50 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:126506 )

• mice die by E13.5

cardiovascular system

decreased heart rate ( J:126506 )

• the beating frequency of E13.5 heart explants is reduced compared to for wild-type hearts

abnormal myocardial fiber physiology ( J:126506 )

• calcium channel current density is reduced compared to in wild-type mice (-12.3+/-0.6 mV compared to -16.9+/-07 mV in wild-type mice)

embryo

abnormal vitelline vascular remodeling ( J:126506 )

• between E11.5 and E12.5, vascular remodeling of the primary capillary plexus fails to occur and a honeycomb-like network of tubules with enlarged and uniform diameters forms in the extra- and intraembryonic vasculature

Allelic Composition	Tg(Myh6-GFP,MAP2K6)8Ywa/? Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Tg(Myh6-GFP,MAP2K6)8Ywa mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:72242 )

• hemizygous or homozygous mice for Tg(Myh6-GFP,MAP2K6)8Ywa that are also heterozygous for Myl2^tm1(cre)Krc, in which cre mediated recombination is induced in cardiac muscle, display premature death between 5 and 7 weeks of age

respiratory system

pulmonary edema ( J:72242 )

• pulmonary edema

respiratory distress ( J:72242 )

• sign of dyspnea around time of death

homeostasis/metabolism

pulmonary edema ( J:72242 )

• pulmonary edema

cardiovascular system

increased myocardial fiber size ( J:72242 )

• modest increase in myocyte size, and no myocyte atrophy

increased heart atrium size ( J:72242 )

• profoundly enlarged atria

increased heart weight ( J:72242 )

• increased atrial mass often filled with thrombosis

• external dimensions, and mass of ventricles are normal

cardiac interstitial fibrosis ( J:72242 )

• trichrome staining shows substantial interstitial fibrotic tissues

abnormal cardiovascular system physiology ( J:72242 )

• systolic contractile depression and restrictive diastolic abnormalities

• reduced end-diastolic ventricular cavity size

muscle

increased myocardial fiber size ( J:72242 )

• modest increase in myocyte size, and no myocyte atrophy

growth/size/body

increased heart weight ( J:72242 )

• increased atrial mass often filled with thrombosis

• external dimensions, and mass of ventricles are normal

cellular

cardiac interstitial fibrosis ( J:72242 )

• trichrome staining shows substantial interstitial fibrotic tissues

Allelic Composition	Tg(Myh6-GFP,MAP2K3)58Ywa/? Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Tg(Myh6-GFP,MAP2K3)58Ywa mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:72242 )

• hemizygous or homozygous mice for Tg(Myh6-GFP,MAP2K3)58Ywa that are also heterozygous for Myl2^tm1(cre)Krc, in which cre mediated recombination is induced in cardiac muscle, display premature death between 5 and 7 weeks of age

respiratory system

pulmonary edema ( J:72242 )

• pulmonary edema

respiratory distress ( J:72242 )

• sign of dyspnea around time of death

homeostasis/metabolism

pulmonary edema ( J:72242 )

• pulmonary edema

cardiovascular system

abnormal myocardial fiber morphology ( J:72242 )

• heterogeneous myocyte atrophy

increased heart atrium size ( J:72242 )

• profoundly enlarged atria

increased heart weight ( J:72242 )

• increased atrial mass often filled with thrombosis

• external dimensions, and mass of ventricles are normal

thin ventricular wall ( J:72242 )

cardiac interstitial fibrosis ( J:72242 )

• trichrome staining shows substantial interstitial fibrotic tissues

abnormal cardiovascular system physiology ( J:72242 )

• systolic contractile depression and restrictive diastolic abnormalities

• increased end-systolic chamber volumes

muscle

abnormal myocardial fiber morphology ( J:72242 )

• heterogeneous myocyte atrophy

growth/size/body

increased heart weight ( J:72242 )

• increased atrial mass often filled with thrombosis

• external dimensions, and mass of ventricles are normal

cellular

cardiac interstitial fibrosis ( J:72242 )

• trichrome staining shows substantial interstitial fibrotic tissues

Allelic Composition	Lims1^tm1.1Chen/Lims1^tm1.1Chen Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lims1^tm1.1Chen mutation (0 available); any Lims1 mutation (53 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:97635 )

N	• exhibit no basal phenotype with regard to mouse survival, cardiac histology or cardiac function

Allelic Composition	Erbb2^tm1Klee/Erbb2^tm1Klee Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2^tm1Klee mutation (0 available); any Erbb2 mutation (61 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:76196 )

• transthoracic arotic banding results in a significant increase in mortality (70%) versus wild-type (10%)

cardiovascular system

abnormal myocardial fiber morphology ( J:76196 )

• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged

abnormal heart ventricle morphology ( J:76196 )

• increase in apoptosis in the ventricles

decreased heart left ventricle septal wall thickness ( J:76196 )

• decrease in LV septal thickness

decreased heart left ventricle posterior wall thickness ( J:76196 )

• decrease in LV posterior wall thickness

dilated cardiomyopathy ( J:76196 )

• mutants display relatively normal function at 6 weeks of age and progressively acquire features of cardiomyopathy over a 6-month period

• exhibit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio

decreased heart ventricle muscle contractility ( J:76196 )

• decrease in fractional shortening, velocity of circumferential fiber shortening and a reduction of the maximum first derivative of left ventricle pressure, indicating depressed myocardium contractility, however no differences in heart rate or left ventricle end-diastolic pressure

abnormal cardiac muscle relaxation ( J:76196 )

• reduction in left ventricle dP/dt min indicates impaired left ventricle relaxation

muscle

abnormal myocardial fiber morphology ( J:76196 )

• increase in the numbers of mitochondria and vacuoles in cardiomyoctyes, however cytoskeletal ultrastructure is unchanged

dilated cardiomyopathy ( J:76196 )

• mutants display relatively normal function at 6 weeks of age and progressively acquire features of cardiomyopathy over a 6-month period

• exhibit ventricular enlargement of both the left and right cardiac chambers and a marked increase in heart:body weight ratio

decreased heart ventricle muscle contractility ( J:76196 )

abnormal cardiac muscle relaxation ( J:76196 )

• reduction in left ventricle dP/dt min indicates impaired left ventricle relaxation

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Srsf1^tm1Xdfu/Srsf1^tm1Xdfu
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Srsf1^tm1Xdfu mutation (1 available); any Srsf1 mutation (26 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:96039 )

• homozygous mice die between 6-8 weeks after birth from the heart malfunction with a gender difference (males more severely affected then females)

cardiovascular system

abnormal myocardial fiber morphology ( J:96039 )

cardiac hypertrophy ( J:96039 )

decreased heart left ventricle posterior wall thickness ( J:96039 )

• thinner posterior wall of the left ventricle

cardiac fibrosis ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

decreased heart rate ( J:96039 )

muscle

abnormal myocardial fiber morphology ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

growth/size/body

cardiac hypertrophy ( J:96039 )

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Srsf2^tm1Xdfu/Srsf2^tm1Xdfu
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Srsf2^tm1Xdfu mutation (1 available); any Srsf2 mutation (11 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

pregnancy-related premature death ( J:88432 )

• life span is normal except that pregnancy-induced mortality is seen

cardiovascular system

cardiovascular system phenotype ( J:88432 )

N	• deletion had little affect on cardiomyocyte proliferation or viability • mutants have a normal heart rate, interventricular septum thickness, and left ventricular posterior wall thickness

cardiac interstitial fibrosis ( J:88432 )

• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice

dilated cardiomyopathy ( J:88432 )

• mutant hearts appear normal initially and become enlarged 5 weeks after birth

• increasing workload and stress results in manifestation of a latent defect in cardiac function

decreased heart ventricle muscle contractility ( J:88432 )

• mutants have a severe contraction defect

• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced

• in isolated cardiomyocytes resting intracellular and diastolic Ca²⁺ is normal however, with increasing pacing frequencies a significant decrease in both Ca²⁺ transients and cell contraction are detected

• defects in Ca²⁺ relaxation kinetics and reduced Ca²⁺ transients would weaken the excitation-contraction coupling in response to increasing workload

decreased heart left ventricle muscle contractility ( J:88432 )

• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth

muscle

dilated cardiomyopathy ( J:88432 )

• mutant hearts appear normal initially and become enlarged 5 weeks after birth

• increasing workload and stress results in manifestation of a latent defect in cardiac function

decreased heart ventricle muscle contractility ( J:88432 )

• mutants have a severe contraction defect

• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced

• defects in Ca²⁺ relaxation kinetics and reduced Ca²⁺ transients would weaken the excitation-contraction coupling in response to increasing workload

decreased heart left ventricle muscle contractility ( J:88432 )

• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth

cellular

cardiac interstitial fibrosis ( J:88432 )

• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Slc8a1^tm1Kdp/Slc8a1^tm1Kdp
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Slc8a1^tm1Kdp mutation (1 available); any Slc8a1 mutation (55 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:101484 )

• about 10% of mutants die at 103 +/- 7 days of age

pregnancy-related premature death ( J:101484 )

• all (6) mutant females that gave birth died within 9+/-2 days of delivery and 4 mutant females died after mating but before delivery

cardiovascular system

enlarged heart ( J:101484 )

• mutants that die at 103 +/- 7 days of age have enlarged hearts

decreased cardiac muscle contractility ( J:101484 )

• at 7 - 8 weeks of age, fractional shortening, velocity of circumferential fiber shortening, and ejection fraction are reduced by 30%, 25%, and 21%, respectively; however no signs of hypertrophy are seen at this time

• impairment of cardiac function increases with age

abnormal myocardial fiber physiology ( J:101484 )

• the decline of caffeine-induced calcium transients is slower in mutant cells and caffeine-induced Na+-Ca2+ exchange current is absent

• current-voltage relationships for voltage-dependent L-type Ca2+ currents are decreased

muscle

decreased cardiac muscle contractility ( J:101484 )

• impairment of cardiac function increases with age

growth/size/body

enlarged heart ( J:101484 )

• mutants that die at 103 +/- 7 days of age have enlarged hearts

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Tsc1^tm1Djk/Tsc1^tm1Djk
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (71 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:96138 )

• midian survival was 6 months

• none survived past 8 months

cardiovascular system

pulmonary vascular congestion ( J:96138 )

• pulmonary congestion

abnormal myocardial fiber morphology ( J:96138 )

• focal appearance of enlarged cardiac myocytes with apparent vacuoles

• scattered intramural foci of enlarged cells with excess glycogen revealed by histologic studies at 2 and 5 month of age

• there was no evidence of proliferative cardiac tumors

increased myocardial fiber size ( J:96138 )

dilated cardiomyopathy ( J:96138 )

• with heart enlargement and pulmonary congestion

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

• increase in heart weight, heart/body weight ratio and heart weight/tibial length ratio

decreased cardiac muscle contractility ( J:96138 )

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

muscle

abnormal myocardial fiber morphology ( J:96138 )

• focal appearance of enlarged cardiac myocytes with apparent vacuoles

• scattered intramural foci of enlarged cells with excess glycogen revealed by histologic studies at 2 and 5 month of age

• there was no evidence of proliferative cardiac tumors

increased myocardial fiber size ( J:96138 )

dilated cardiomyopathy ( J:96138 )

• with heart enlargement and pulmonary congestion

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

• increase in heart weight, heart/body weight ratio and heart weight/tibial length ratio

decreased cardiac muscle contractility ( J:96138 )

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

homeostasis/metabolism

abnormal atrial thrombosis ( J:96138 )

• the presence of thrombus in the left atrium in some

respiratory system

pulmonary vascular congestion ( J:96138 )

• pulmonary congestion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:96138

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Sp4^tm2Krc/Sp4^tm2Krc
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Sp4^tm2Krc mutation (0 available); any Sp4 mutation (35 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

abnormal heart morphology ( J:107057 )

• in mutants, there is a marked disorganization of a marker for cardiac Purkinje cells Cx40, with it being dispersed throughout the cell instead of localized along the cell boundaries as in wild-type

Allelic Composition	F3^tm1Nmk/F3^tm1Nmk Myl2^tm1(cre)Krc/?
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F3^tm1Nmk mutation (1 available); any F3 mutation (24 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiac fibrosis ( J:137921 )

• normal hearts at 6 months

• hemosiderin deposition and fibrosis in 3 of 12 hearts examined at 9 months

• isoproterenol treatment of 3 month old mice also results in hemosiderin deposition and fibrosis

Allelic Composition	Mef2c^tm1Eno/Mef2c^tm1Jjs Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mef2c^tm1Eno mutation (0 available); any Mef2c mutation (34 available)
Mef2c^tm1Jjs mutation (1 available); any Mef2c mutation (34 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:100949 )

• no defects in heart or body weight parameters or in electrocardiogram analyses are seen in mice between 14 and 40 weeks of age

• suggests that this gene is not required for development or function of the heart after the looping morphogenesis stage

Allelic Composition	F3^tm1Nmk/F3^tm1Nmk Myl2^tm1(cre)Krc/? Tg(Myh6-F3)4Nmk/?
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac * BALB/c * C57BL/6

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:137921 )

N	• mice are normal to 6 months of age

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Rxra^tm1Krc/Rxra^tm1Krc
Genetic Background	involves: 129S4/SvJae * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Rxra^tm1Krc mutation (1 available); any Rxra mutation (30 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:48085 )

• mutants in which Rxra is specifically deleted in ventricular myocardium are indistinguishable from littermates, grow to adulthood without signs of neonatal dysfunction and hearts do not exhibit any defects, indicating normal fetal ventricular morphogenesis

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Vcl^tm1Ross/Vcl^tm1Ross
Genetic Background	involves: 129S4/SvJae * Black Swiss * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Vcl^tm1Ross mutation (1 available); any Vcl mutation (48 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:129075 )

• mice exhibit sudden deaths with no symptoms of cardiomyopathy at young ages (6 weeks) and signs of heart failure at older ages (14 months)

• at 14 weeks, 49% of males die suddenly without any defects in cardiac contractile function

cardiovascular system

abnormal cardiovascular system morphology ( J:129075 )

abnormal myocardial fiber morphology ( J:129075 )

abnormal intercalated disk morphology ( J:129075 )

increased heart weight ( J:129075 )

• heart weight to body weight and heart weight to tibia length are increased

cardiac hypertrophy ( J:129075 )

dilated heart left ventricle ( J:129075 )

• mice exhibit progressive dilation of the left ventricle during systole and diastole that parallels the decline in ventricular function

cardiac fibrosis ( J:129075 )

abnormal cardiovascular system physiology ( J:129075 )

dilated cardiomyopathy ( J:129075 )

• mutants that do not die suddenly, develop dilated cardiomyopathy as they age

decreased cardiac muscle contractility ( J:129075 )

• as mice age they display reduced percent fractional shortening and velocity of circumferential fiber shortening

abnormal cardiac muscle relaxation ( J:129075 )

• at high doses of dobutamine left ventricle relaxation is abnormal indicating mild diastolic dysfunction

ventricular tachycardia ( J:129075 )

• young mice exhibit polymorphic ventricular tachycardia

irregular heartbeat ( J:129075 )

• older mice exhibit arrhythmias that are not found in wild-type mice

abnormal impulse conducting system conduction ( J:129075 )

• 86% of mice exhibit ectopy

• during apical pacing, hearts display a disturbed front wave propagation and greater negative front wave curvature compared to in wild-type mice

heart block ( J:129075 )

• young mice exhibit heart block

congestive heart failure ( J:129075 )

• mice that die after 14 weeks exhibit signs, symptoms and postmortem evidence of heart failure

muscle

abnormal myocardial fiber morphology ( J:129075 )

abnormal intercalated disk morphology ( J:129075 )

dilated cardiomyopathy ( J:129075 )

• mutants that do not die suddenly, develop dilated cardiomyopathy as they age

decreased cardiac muscle contractility ( J:129075 )

• as mice age they display reduced percent fractional shortening and velocity of circumferential fiber shortening

abnormal cardiac muscle relaxation ( J:129075 )

• at high doses of dobutamine left ventricle relaxation is abnormal indicating mild diastolic dysfunction

growth/size/body

increased heart weight ( J:129075 )

• heart weight to body weight and heart weight to tibia length are increased

cardiac hypertrophy ( J:129075 )

Allelic Composition	Gt(ROSA)26Sor^{tm1(Cdkn1c)Jfpa}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(Cdkn1c)Jfpa} mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

increased coronary flow rate ( J:197451 )

• higher coronary flow after ischemia/reperfusion injury

abnormal heart left ventricle pressure ( J:197451 )

• significantly better cardiac function after 30 minutes of ischemia followed by 30 minutes of reperfusion than in controls

• higher left ventricle developed pressure than in controls

• higher rate pressure product

decreased myocardial infarct size ( J:197451 )

homeostasis/metabolism

decreased myocardial infarct size ( J:197451 )

Allelic Composition	Atp1b1^tm1.1Akra/Atp1b1^tm1.1Akra Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp1b1^tm1.1Akra mutation (0 available); any Atp1b1 mutation (20 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:152596 )

• following transverse aortic constriction, mice exhibit increased mortality compared to wild-type mice

cardiovascular system

increased heart weight ( J:152596 )

• at post-mortem

cardiac hypertrophy ( J:152596 )

• at 13 to 14 months

abnormal cardiac muscle contractility ( J:152596 )

• maximum rate of heart contraction and relaxation is increased compared to in wild-type mice

decreased heart ventricle muscle contractility ( J:152596 )

• at 13 to 14 months, mice exhibit decreased fractional shortening, velocity of circumferential fiber shortening, and ejection fraction compared with wild-type mice

• following transverse aortic constriction, mice exhibit decreased fractional shortening, velocity of circumferential fiber shortening, and ejection fraction compared with wild-type mice

• mice treated with ouabain fail to exhibit an increase in maximum rate of heart contraction and relaxation unlike similarly treated wild-type mice

abnormal myocardial fiber physiology ( J:152596 )

• the amplitude of calcium ion released from cardiomyocyte is increased 1.6-fold compared to in wild-type cells

• time to peak calcium ion release from cardiomyocyte is increased compared to in wild-type cells

increased response of heart to induced stress ( J:152596 )

• following transverse aortic constriction, mice exhibit signs of heart dysfunction, decreased ventricular function, and increased mortality compared to wild-type mice

homeostasis/metabolism

increased response of heart to induced stress ( J:152596 )

• following transverse aortic constriction, mice exhibit signs of heart dysfunction, decreased ventricular function, and increased mortality compared to wild-type mice

decreased physiological sensitivity to xenobiotic ( J:152596 )

• mice treated with ouabain fail to exhibit an increase in maximum rate of heart contraction and relaxation unlike similarly treated wild-type mice

• cardiomyocytes treated with ouabain fail to exhibit alterations in calcium ion transients unlike similarly treated wild-type cells

muscle

abnormal cardiac muscle contractility ( J:152596 )

• maximum rate of heart contraction and relaxation is increased compared to in wild-type mice

decreased heart ventricle muscle contractility ( J:152596 )

• at 13 to 14 months, mice exhibit decreased fractional shortening, velocity of circumferential fiber shortening, and ejection fraction compared with wild-type mice

• following transverse aortic constriction, mice exhibit decreased fractional shortening, velocity of circumferential fiber shortening, and ejection fraction compared with wild-type mice

• mice treated with ouabain fail to exhibit an increase in maximum rate of heart contraction and relaxation unlike similarly treated wild-type mice

growth/size/body

increased heart weight ( J:152596 )

• at post-mortem

cardiac hypertrophy ( J:152596 )

• at 13 to 14 months

Allelic Composition	Atg5^tm1Myok/Atg5^tm1Myok Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg5^tm1Myok mutation (3 available); any Atg5 mutation (29 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:121778 )

• mice die after thoracic transverse aortic constriction of heart failure

cardiovascular system

dilated heart left ventricle ( J:121778 )

• 1 week following thoracic transverse aortic constriction (TAC) or a 7 day treatment with isoproterenol left ventricular dilation is observed

abnormal cardiovascular system physiology ( J:121778 )

• thoracic transverse aortic constriction (TAC) and isoproterenol induce severe cardiac dysfunction

congestive heart failure ( J:121778 )

• 4 weeks following TAC

homeostasis/metabolism

increased physiological sensitivity to xenobiotic ( J:121778 )

• following a 7 day treatment with isoproterenol the left ventricle is dilated and mice exhibit severe cardiac dysfuction, unlike wild-type mice where the treatment has no significant effect

Allelic Composition	Fgfr1^tm1Upir/Fgfr1^tm1Upir Fgfr2^tm1Dor/Fgfr2^tm1Dor Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1Upir mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2^tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

heart hypoplasia ( J:131577 )

• mice exhibit smaller hearts than mice homozygous for null alleles of Fgfr1 and Fgfr2 due to decreased myocardial proliferation

• however, coronary development is normal

thin ventricular wall ( J:131577 )

• mice exhibit thinner ventricular walls than mice homozygous for null alleles of Fgfr1 and Fgfr2

Allelic Composition	Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor⁺ Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129/Sv * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

heart hypoplasia ( J:131577 )

• mice exhibit small hearts due to decreased myocardial proliferation

• however, coronary development is normal

thin ventricular wall ( J:131577 )

• the ventricular wall thickness is 67+/-8% of wild-type but not as thin as in homozygotes (54+/-6%)

Allelic Composition	Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor}/Gt(ROSA)26Sor^{tm1(Cdkn1b,EGFP)Dor} Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	involves: 129/Sv * 129S4/SvJae * C57BL/6

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

heart hypoplasia ( J:131577 )

• mice exhibit small hearts due to decreased myocardial proliferation

• however, coronary development is normal

thin ventricular wall ( J:131577 )

• the ventricular wall thickness is 54+/-6% of wild-type mice

Allelic Composition	Gja1^tm1Gfi/Gja1^tm1Gfi Myl2^tm1(cre)Krc/Myl2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1Gfi mutation (0 available); any Gja1 mutation (60 available)
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:91971 )

• begin to die at 2-3 weeks of age and all are dead within the first 2 months

Allelic Composition	Myl2^tm1(cre)Krc/Myl2⁺ Pip5k1c^tm2Csab/Pip5k1c^tm2Csab
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2^tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Pip5k1c^tm2Csab mutation (0 available); any Pip5k1c mutation (41 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal platelet physiology ( J:196476 )

• mutant platelets have a membrane-related cytoskeletal defect that might account for the ex vivo adhesion defect

abnormal platelet aggregation ( J:196476 )

• wild-type platelets adhered to collagen in small clusters, whereas adherent mutant platelets failed to aggregate with other platelets

• mutant mice formed stable thrombi less efficiently than controls; these mice usually formed thrombi as rapidly as wild-type mice, but these vascular occlusions were unstable

homeostasis/metabolism

abnormal platelet physiology ( J:196476 )

• mutant platelets have a membrane-related cytoskeletal defect that might account for the ex vivo adhesion defect

abnormal platelet aggregation ( J:196476 )

• wild-type platelets adhered to collagen in small clusters, whereas adherent mutant platelets failed to aggregate with other platelets

• mutant mice formed stable thrombi less efficiently than controls; these mice usually formed thrombi as rapidly as wild-type mice, but these vascular occlusions were unstable

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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