All Phenotypes Ttn<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ttn^tm1Brge/Ttn⁺	B6.Cg-Ttn^tm1Brge	MGI:4359814
ht2	Ttn^tm1.1Isrd/Ttn⁺	involves: 129S2/SvPas * C57BL/6	MGI:4838323
ht3	Ttn^tm2.1Mgot/Ttn⁺	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4946086
ht4	Ttn^tm1Her/Ttn⁺	Not Specified	MGI:2651651
cx5	Capn3^tm1Jsb/Capn3⁺ Ttn^tm1.1Isrd/Ttn⁺	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:4838326

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

cardiovascular system

cardiovascular system phenotype ( J:152736 )

N	• under normal condition, mice exhibit normal cardiac function and mechanical properties

abnormal heart left ventricle morphology ( J:152736 )

• after 2 weeks of treatment with angiotensin II, mice exhibit increased left ventricular end-diastolic diameter (LVEDD) compared with similarly treated wild-type mice

• however, a normal decrease in LVEDD a week after angiotensin II treatment is observed

dilated heart left ventricle ( J:152736 )

• mice treated with angiotensin II or isoproterenol exhibit increased left ventricular dilation compared with similarly treated wild-type mice

cardiac interstitial fibrosis ( J:152736 )

• following treatment with angiotensin II or isoproterenol

dilated cardiomyopathy ( J:152736 )

• following treatment with angiotensin II or isoproterenol

decreased cardiac muscle contractility ( J:152736 )

• after 1 and 2 weeks of treatment with angiotensin II, mice exhibit decreased fractional shortening compared with similarly treated wild-type mice

• after treatment with isoproterenol, mice exhibit reduced ejection fraction and fractional shortening compared with similarly treated wild-type mice

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:152736 )

• mice treated with angiotensin II or isoproterenol exhibit left ventricular dilation, decreased fractional shortening, increased left ventricular end-diastolic diameter, and increased cardiac interstitial fibrosis compared with similarly treated wild-type mice

muscle

dilated cardiomyopathy ( J:152736 )

• following treatment with angiotensin II or isoproterenol

decreased cardiac muscle contractility ( J:152736 )

• after 1 and 2 weeks of treatment with angiotensin II, mice exhibit decreased fractional shortening compared with similarly treated wild-type mice

• after treatment with isoproterenol, mice exhibit reduced ejection fraction and fractional shortening compared with similarly treated wild-type mice

cellular

cardiac interstitial fibrosis ( J:152736 )

• following treatment with angiotensin II or isoproterenol

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1G		DOID:0110430	OMIM:604145	J:152736

Allelic Composition	Ttn^tm1.1Isrd/Ttn⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttn^tm1.1Isrd mutation (0 available); any Ttn mutation (1455 available)

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

limbs/digits/tail

abnormal limb muscle morphology ( J:165576 )

• dystrophic features arising from 9 months of age in Biceps Femoris

abnormal quadriceps morphology ( J:165576 )

• dystrophic features arising from 9 months of age

abnormal tibialis anterior morphology ( J:165576 )

• dystrophic features arising from 9 months of age

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:165576 )

• significant deviation from Mendelian rations at birth, prenatal loss affects half the heterozygous animals, however at E12 embryo ratios exist at a Mendelain ratio, with the presence of necrotic embryos

prenatal lethality, incomplete penetrance ( J:165576 )

muscle

abnormal limb muscle morphology ( J:165576 )

• dystrophic features arising from 9 months of age in Biceps Femoris

abnormal quadriceps morphology ( J:165576 )

• dystrophic features arising from 9 months of age

abnormal tibialis anterior morphology ( J:165576 )

• dystrophic features arising from 9 months of age

dystrophic muscle ( J:165576 )

• dystrophic features in three specific muscles, tibialis anterior, Biceps Femoris and Quadriceps

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tibial muscular dystrophy		DOID:0111078	OMIM:600334	J:165576

Allelic Composition	Ttn^tm2.1Mgot/Ttn⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttn^tm2.1Mgot mutation (0 available); any Ttn mutation (1455 available)

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

muscle

abnormal muscle physiology ( J:169969 )

• mice exhibit an intermediate increase in diastolic wall stress compared with wild-type mice and homozygotes

Allelic Composition	Ttn^tm1Her/Ttn⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttn^tm1Her mutation (0 available); any Ttn mutation (1455 available)

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

normal phenotype

no abnormal phenotype detected ( J:81993 )

Allelic Composition	Capn3^tm1Jsb/Capn3⁺ Ttn^tm1.1Isrd/Ttn⁺
Genetic Background	involves: 129/Sv * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capn3^tm1Jsb mutation (0 available); any Capn3 mutation (48 available)
Ttn^tm1.1Isrd mutation (0 available); any Ttn mutation (1455 available)

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

normal phenotype

no abnormal phenotype detected ( J:165576 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	tibial muscular dystrophy	DOID:0111078	OMIM:600334	J:165576

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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