Phenotypes associated with this allele

• Allele Symbol: Tg(Tagln-cre)1Her
• Allele Name: transgene insertion 1, Joachim Herz
• Allele ID: MGI:2446975
• Summary: 45 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Abcc6^tm1c(EUCOMM)Wtsi/Abcc6^tm1c(EUCOMM)Wtsi Tg(Tagln-cre)1Her/?	B6.Cg-Abcc6^tm1c(EUCOMM)Wtsi Tg(Tagln-cre)1Her	MGI:6241522
cn2	Jag1^tm1Frad/Jag1^tm1Frad Tg(Tagln-cre)1Her/0	B6.Cg-Jag1^tm1Frad Tg(Tagln-cre)1Her	MGI:5447165
cn3	Lrp1^tm2Her/Lrp1^tm2Her Tg(Tagln-cre)1Her/0	B6.Cg-Lrp1^tm2Her Tg(Tagln-cre)1Her	MGI:4943740
cn4	Rock2^tm1.1Itl/Rock2^+ Tg(Tagln-cre)1Her/0	B6.Cg-Rock2^tm1.1Itl Tg(Tagln-cre)1Her	MGI:5702757
cn5	Atp2b1^tm1.1Hiraw/Atp2b1^tm1.1Hiraw Tg(Tagln-cre)1Her/0	B6J.Cg-Atp2b1^tm1.1Hiraw Tg(Tagln-cre)1Her	MGI:5708674
cn6	Abcc9^tm1.1Mcn/Abcc9^tm1.1Mcn Tg(Tagln-cre)1Her/0	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5770475
cn7	Notch2^tm3Grid/Notch2^tm3.1Grid Tg(Tagln-cre)1Her/?	involves: 129 * C57BL/6	MGI:3778203
cn8	Gt(ROSA)26Sor^tm1(NOTCH3)Sat/Gt(ROSA)26Sor^+ Notch3^Gt(PST033)Byg/Notch3^Gt(PST033)Byg Tg(Tagln-cre)1Her/0	involves: 129 * C57BL/6 * SJL	MGI:5007818
cn9	Tgfbr2^tm1Karl/Tgfbr2^tm1Karl Tg(Tagln-cre)1Her/? Gt(ROSA)26Sor^tm1Sor/?	involves: 129 * C57BL/6 * SJL	MGI:3767614
cn10	Gt(ROSA)26Sor^tm3(NOTCH3*R1031C)Sat/Gt(ROSA)26Sor^+ Notch3^Gt(PST033)Byg/Notch3^Gt(PST033)Byg Tg(Tagln-cre)1Her/0	involves: 129 * C57BL/6 * SJL	MGI:5007810
cn11	Gt(ROSA)26Sor^tm2(NOTCH3*C455R)Sat/Gt(ROSA)26Sor^+ Notch3^Gt(PST033)Byg/Notch3^Gt(PST033)Byg Tg(Tagln-cre)1Her/0	involves: 129 * C57BL/6 * SJL	MGI:5007812
cn12	Gt(ROSA)26Sor^tm1(NOTCH3)Sat/Gt(ROSA)26Sor^+ Notch3^Gt(PST033)Byg/Notch3^Gt(PST033)Byg Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL	MGI:4830996
cn13	Agtr2^tm1Tin/Y Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL	MGI:5585151
cn14	Agtr1a^tm1Unc/Agtr1a^tm1Unc Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL	MGI:5585152
cn15	Tbxa2r^tm1Cof/Tbxa2r^tm1.1Bhk Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL	MGI:5319080
cn16	Smad5^tm1Huy/Smad5^tm1.1Huy Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:3710360
cn17	Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4410315
cn18	Prdm6^tm1.1Jrld/Prdm6^tm1.2Jrld Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5576877
cn19	Eng^tm2.1Hma/Eng^tm2.1Hma Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5775294
cn20	Ptges^tm1.1Gaf/Ptges^tm1.1Gaf Tg(Tagln-cre)1Her/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5570433
cn21	Npr1^tm1Kuhn/Npr1^tm1Kuhn Tg(Tagln-cre)1Her/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:2652140
cn22	Ntf3^tm1Par/Ntf3^tm2Jae Tg(Tagln-cre)1Her/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5559203
cn23	Ntf3^tm2Jae/Ntf3^+ Tg(Tagln-cre)1Her/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5559202
cn24	Jag1^tm1Grid/Jag1^tm2Grid Tg(Tagln-cre)1Her/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:4867007
cn25	Pros1^tm1Grl/Pros1^tm1Grl Tg(Tagln-cre)1Her/0	involves: 129S1/SvImJ * C57BL/6 * SJL	MGI:5499119
cn26	Gt(ROSA)26Sor^tm3(NOTCH3*R1031C)Sat/Gt(ROSA)26Sor^+ Tg(Tagln-cre)1Her/0	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL	MGI:5007819
cn27	Pparg^tm2Rev/Pparg^tm2Rev Tg(Tagln-cre)1Her/?	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5444198
cn28	Pdgfrb^tm14(Pdgfrb)Sor/Pdgfrb^+ Tg(Tagln-cre)1Her/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5140930
cn29	Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya Tg(Tagln-cre)1Her/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4947945
cn30	Hey2^tm1Eno/Hey2^tm2Eno Tg(Tagln-cre)1Her/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3711335
cn31	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tagln-cre)1Her/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4366031
cn32	Lrp1^tm2Her/Lrp1^tm2Her Tg(APP695)3Dbo/0 Tg(PSEN1)5Dbo/0 Tg(Tagln-cre)1Her/0	involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6 * C57BL/6J * SJL	MGI:5471581
cn33	Rxfp2^tm1Aia/Rxfp2^tm1c(EUCOMM)Wtsi Tg(Tagln-cre)1Her/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N * SJL	MGI:5473320
cn34	Agtr1a^tm1Uky/Agtr1a^tm1Uky Ldlr^tm1Her/Ldlr^tm1Her Tg(Tagln-cre)1Her/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N * SJL	MGI:4946109
cn35	Ldlr^tm1Her/Ldlr^tm1Her Lrp1^tm2Her/Lrp1^tm2Her Tg(Tagln-cre)1Her/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL	MGI:4943557
cn36	Lrp1^tm2Her/Lrp1^tm2Her Tg(Tagln-cre)1Her/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:6102946
cn37	Rock2^tm1.1Itl/Rock2^tm1.1Itl Tg(Tagln-cre)1Her/0	involves: 129S/SvEv * C57BL/6 * C57BL/6J * SJL	MGI:5702755
cn38	Atp1a2^tm4.1Ling/Atp1a2^tm4.1Ling Tg(Tagln-cre)1Her/0	involves: Black Swiss * C57BL/6 * SJL	MGI:5296817
cn39	Tg(CMV-cat,-ROCK2*)3-1Koba/0 Tg(Tagln-cre)1Her/0	involves: C57BL/6 * C57BL/6JJcl * DBA/2 * SJL	MGI:5910538
cn40	Agtr1a^tm1Uky/Agtr1a^tm1Uky Tg(Tagln-cre)1Her/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:4946108
cn41	Commd9^tm1c(KOMP)Wtsi/Commd9^tm1c(KOMP)Wtsi Tg(Tagln-cre)1Her/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5796351
cn42	Gata5^tm1.1Nemr/Gata5^tm1.1Nemr Tg(Tagln-cre)1Her/0	involves: C57BL/6 * SJL	MGI:5707856
cn43	Best3^tm1.1Zhoj/Best3^tm1.1Zhoj Tg(Tagln-cre)1Her/0	involves: C57BL/6 * SJL	MGI:7536982
cn44	Sec24c^tm1c(EUCOMM)Wtsi/Sec24c^tm1c(EUCOMM)Wtsi Tg(Tagln-cre)1Her/0	involves: C57BL/6 * SJL	MGI:5896388
cn45	Efemp2^tm1.1Tynk/Efemp2^tm1.1Tynk Tg(Tagln-cre)1Her/0	involves: C57BL/6 * SJL	MGI:4410314

Genotype
MGI:6241522

cn1

• Allelic Composition: Abcc6^{tm1c(EUCOMM)Wtsi}/Abcc6^{tm1c(EUCOMM)Wtsi}; Tg(Tagln-cre)1Her/?
• Genetic Background: B6.Cg-Abcc6^{tm1c(EUCOMM)Wtsi} Tg(Tagln-cre)1Her

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

integument

integument phenotype ( J:252837 )

N • no calcification occurs in the fibrous capsule surrounding the muzzle vibrissae

Genotype
MGI:5447165

cn2

• Allelic Composition: Jag1^tm1Frad/Jag1^tm1Frad; Tg(Tagln-cre)1Her/0
• Genetic Background: B6.Cg-Jag1^tm1Frad Tg(Tagln-cre)1Her

mortality/aging

neonatal lethality, incomplete penetrance ( J:166890 )

• most mice die within 2 days of birth with few surviving beyond 4 weeks

postnatal lethality, incomplete penetrance ( J:166890 )

• most mice die within 2 days of birth with few surviving beyond 4 weeks

liver/biliary system

liver hemorrhage ( J:166890 )

• multifoci

abnormal bile duct morphology ( J:166890 )

• absent or incompletely formed bile ducts near the portal veins

abnormal bile duct development ( J:166890 )

• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced

• epithelial cells fail to aggregate

hepatic necrosis ( J:166890 )

abnormal bile secretion ( J:166890 )

• accumulation of bile in liver parenchyma

cholestasis ( J:166890 )

jaundice ( J:166890 )

• at birth

homeostasis/metabolism

increased circulating bilirubin level ( J:166890 )

• total and conjugated

increased circulating cholesterol level ( J:166890 )

increased circulating alanine transaminase level ( J:166890 )

increased circulating alkaline phosphatase level ( J:166890 )

increased circulating aspartate transaminase level ( J:166890 )

increased circulating lactate dehydrogenase level ( J:166890 )

increased circulating gamma-glutamyl transferase level ( J:166890 )

growth/size/body

decreased body weight ( J:166890 )

• at P25

postnatal growth retardation ( J:166890 )

• at birth and in mice that survive beyond 4 weeks, worsening over time

behavior/neurological

lethargy ( J:166890 )

• in mice that survive beyond 4 weeks, worsening over time

cardiovascular system

liver hemorrhage ( J:166890 )

• multifoci

integument

alopecia ( J:166890 )

• in mice that survive beyond 4 weeks, worsening over time

endocrine/exocrine glands

abnormal bile duct morphology ( J:166890 )

• absent or incompletely formed bile ducts near the portal veins

abnormal bile duct development ( J:166890 )

• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced

• epithelial cells fail to aggregate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:166890

Genotype
MGI:4943740

cn3

• Allelic Composition: Lrp1^tm2Her/Lrp1^tm2Her; Tg(Tagln-cre)1Her/0
• Genetic Background: B6.Cg-Lrp1^tm2Her Tg(Tagln-cre)1Her

cardiovascular system

abnormal aorta tunica media morphology ( J:167799 )

• medial thickness is doubled with an increase in the number of cell nuclei

abnormal aorta elastic tissue morphology ( J:167799 )

• increase in the number of disruptions of the elastic layers

abnormal aorta smooth muscle morphology ( J:167799 )

• freshly isolated cells are more epithelioid shaped compared to the spindled shaped cells from control mice

• alpha-actin filaments are less abundant and often disrupted in quiescent smooth muscle cells

abnormal vascular smooth muscle physiology ( J:167799 )

• aortic smooth muscle cells challenged with PDGF-bb display more rapid alpha-actin filament disassembly and fillapodial extension and enhanced proliferation and migration compared to controls

• cultured aortic smooth muscle cells show enhanced serum induced cell growth

decreased vasoconstriction ( J:167799 )

• aortic rings mice fail to reach the 50% level of force generation at any concentration of KCl and phenylephrine tested

abnormal vascular wound healing ( J:167799 )

• increase in neointimal formation and prolonged neointimal hyperplasia following endothelial denudation of carotid arteries

homeostasis/metabolism

abnormal vascular wound healing ( J:167799 )

• increase in neointimal formation and prolonged neointimal hyperplasia following endothelial denudation of carotid arteries

muscle

abnormal aorta smooth muscle morphology ( J:167799 )

• freshly isolated cells are more epithelioid shaped compared to the spindled shaped cells from control mice

• alpha-actin filaments are less abundant and often disrupted in quiescent smooth muscle cells

abnormal vascular smooth muscle physiology ( J:167799 )

• aortic smooth muscle cells challenged with PDGF-bb display more rapid alpha-actin filament disassembly and fillapodial extension and enhanced proliferation and migration compared to controls

• cultured aortic smooth muscle cells show enhanced serum induced cell growth

decreased vasoconstriction ( J:167799 )

• aortic rings mice fail to reach the 50% level of force generation at any concentration of KCl and phenylephrine tested

Genotype
MGI:5702757

cn4

• Allelic Composition: Rock2^tm1.1Itl/Rock2⁺; Tg(Tagln-cre)1Her/0
• Genetic Background: B6.Cg-Rock2^tm1.1Itl Tg(Tagln-cre)1Her

cardiovascular system

decreased susceptibility to hypertension ( J:222206 )

• hypoxia-induced pulmonary hypertension is ameliorated in mutants

• hypoxia-induced increases in right ventricular systolic pressure, right ventricular end-diastolic pressure, peak rates of right ventricular pressure development and relaxation, right ventricle hypertrophy, pulmonary vascular remodeling, the number of CD45+ inflammatory cells in the hypoxic pulmonary artery, and pulmonary vascular cell proliferation are suppressed in mutants compared to controls

• however, mice show no differences in heart rate, systemic blood pressure, or left ventricular hemodynamic parameters before or after chronic hypoxia, no differences in pulmonary vasculature and right ventricular systolic pressure under normoxic conditions, and no differences in hemoglobin levels and platelet counts following long-term exposure to hypoxia compared to controls

abnormal vascular smooth muscle physiology ( J:222206 )

• in vitro, aortic vascular smooth muscle migration in response to fetal bovine serum is decreased

decreased vascular smooth muscle cell proliferation ( J:222206 )

• in vitro, aortic vascular smooth muscle cell proliferation in response to fetal bovine serum is decreased

immune system

abnormal cytokine secretion ( J:222206 )

• levels of inflammatory cytokines like interferon-gamma and TNF-alpha secreted by vascular smooth muscle cells are reduced under both normoxic and hypoxic conditions

muscle

abnormal vascular smooth muscle physiology ( J:222206 )

• in vitro, aortic vascular smooth muscle migration in response to fetal bovine serum is decreased

decreased vascular smooth muscle cell proliferation ( J:222206 )

• in vitro, aortic vascular smooth muscle cell proliferation in response to fetal bovine serum is decreased

cellular

decreased vascular smooth muscle cell proliferation ( J:222206 )

• in vitro, aortic vascular smooth muscle cell proliferation in response to fetal bovine serum is decreased

Genotype
MGI:5708674

cn5

• Allelic Composition: Atp2b1^tm1.1Hiraw/Atp2b1^tm1.1Hiraw; Tg(Tagln-cre)1Her/0
• Genetic Background: B6J.Cg-Atp2b1^tm1.1Hiraw Tg(Tagln-cre)1Her

cardiovascular system

increased mean systemic arterial blood pressure ( J:225010 )

• at 14 weeks of age, conscious mice show significantly higher mean blood pressure than control mice throughout the day, as measured by 24-hr radiotelemetry

• however, circadian variations in heart rate are not significantly altered

increased systemic arterial diastolic blood pressure ( J:225010 )

• at 14 weeks of age, conscious mice show significantly higher diastolic blood pressure than control mice throughout the day, as measured by 24-hr radiotelemetry

increased systemic arterial systolic blood pressure ( J:225010 )

• under resting conditions, conscious mice exhibit significantly higher systolic blood pressure than control mice at 8 and 22 weeks of age, as measured by the tail-cuff method

• at 14 weeks of age, conscious mice show significantly higher systolic blood pressure than control mice throughout the day, as measured by 24-hr radiotelemetry

increased vasoconstriction ( J:225010 )

• mutant femoral artery rings are hyperreactive to the maximum concentration of phenylephrine (10^-5 M) relative to control rings (84.1% vs 54.4% KCl contraction, respectively)

muscle

increased vasoconstriction ( J:225010 )

• mutant femoral artery rings are hyperreactive to the maximum concentration of phenylephrine (10^-5 M) relative to control rings (84.1% vs 54.4% KCl contraction, respectively)

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:225010 )

• in primary culture, mutant aortic vascular smooth muscle cells (VSMCs) show higher intracellular calcium concentrations than control VSMCs both before (baseline) and after phenylephrine stimulation

growth/size/body

growth/size/body region phenotype ( J:225010 )

N • mice exhibit normal body weight at 8-36 weeks of age

Genotype
MGI:5770475

cn6

• Allelic Composition: Abcc9^tm1.1Mcn/Abcc9^tm1.1Mcn; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

postnatal lethality, complete penetrance ( J:216539 )

• mice die within 14 days of birth from cardiomyopathy and heart failure

cardiovascular system

abnormal myocardial fiber mitochondrial morphology ( J:216539 )

• at P8, cardiac mitochondria display an immature pattern with reduced cross-sectional area and intermitochondrial contacts relative to wild-type mitochondria

• however, mitochondrial DNA content is normal

abnormal fetal cardiomyocyte morphology ( J:216539 )

• lipid droplet accumulation in neonatal cardiomyocytes, unlike in wild-type hearts

enlarged heart ( J:216539 )

increased heart weight ( J:216539 )

• increased heart weight to tibia length ratio relative to wild-type controls

decreased cardiac muscle contractility ( J:216539 )

• progressive decrease in ejection fraction from P6 to P11

• M-mode echocardiograms revealed a decline in fractional shortening at P11

• however, no increase of apoptosis in P7 ventricles, as shown by TUNEL assays

abnormal fetal cardiomyocyte physiology ( J:216539 )

• pinacidil (a KATP channel opener) fails to produce a robust current increase in neonatal cardiomyocytes, unlike in wild-type controls

• mitochondria from neonatal cardiomyocytes are unresponsive to the KATP agonist diazoxide, consistent with with reduced or absent mitochondrial KATP activity

• rapid loss of mitochondrial membrane potential in isolated neonatal cardiomyocytes after exposure to hydrogen peroxide, indicating reduced resistance to cell stress relative to wild-type cardiomyocytes

• mitochondria show a reduced oxygen consumption rate, lack pinacidil responsiveness, and fail to increase oxygen consumption after FCCP treatment, unlike wild-type mitochondria

• failure to fuse and form larger mitochondria in neonatal cardiomyocytes from P2 to P8

• reduced fatty acid oxidation in neonatal cardiomyocytes after palmitate application

cardiomyopathy ( J:216539 )

• neonatal cardiomyopathy due to failure of the newborn myocardium to transition normally from fetal to mature (oxidative) metabolism

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:216539 )

N • nonfasting serum glucose levels are normal at P5-P7

decreased fatty acid oxidation ( J:216539 )

• reduced fatty acid oxidation in neonatal cardiomyocytes after palmitate application

decreased oxygen consumption ( J:216539 )

• cardiac mitochondria show a reduced oxygen consumption rate, lack pinacidil responsiveness, and fail to increase oxygen consumption after treatment with FCCP (a mitochondrial uncoupling agent), unlike wild-type mitochondria

hypoxia ( J:216539 )

• neonatal cardiomyocytes appear to be in a hypoxic state due to their inability to transition to fatty acid oxidation

cellular

abnormal myocardial fiber mitochondrial morphology ( J:216539 )

• at P8, cardiac mitochondria display an immature pattern with reduced cross-sectional area and intermitochondrial contacts relative to wild-type mitochondria

• however, mitochondrial DNA content is normal

decreased mitochondrial size ( J:216539 )

• failure to fuse and form larger mitochondria in neonatal cardiomyocytes from P2 to P8

increased cellular sensitivity to hydrogen peroxide ( J:216539 )

• neonatal cardiomyocytes are more susceptible to cell death in response to H2O2-induced stress relative to wild-type controls

• opening of KATP channels with pinacidil is less cardioprotective than in wild-type cardiomyocytes

abnormal mitochondrial physiology ( J:216539 )

• mitochondria from neonatal cardiomyocytes are unresponsive to the KATP agonist diazoxide, consistent with with reduced or absent mitochondrial KATP activity

• rapid loss of mitochondrial membrane potential in isolated neonatal cardiomyocytes following cell stress induced by exposure to hydrogen peroxide, unlike in wild-type cardiomyocytes

• mitochondria show a reduced oxygen consumption rate, lack pinacidil responsiveness, and fail to increase oxygen consumption after treatment with FCCP (a mitochondrial uncoupling agent), unlike wild-type mitochondria

decreased fatty acid oxidation ( J:216539 )

• reduced fatty acid oxidation in neonatal cardiomyocytes after palmitate application

oxidative stress ( J:216539 )

• increased reactive oxygen species in isolated neonatal cardiomyocytes, as shown by increased dihydroethidium staining relative to wild-type controls

muscle

abnormal myocardial fiber mitochondrial morphology ( J:216539 )

• at P8, cardiac mitochondria display an immature pattern with reduced cross-sectional area and intermitochondrial contacts relative to wild-type mitochondria

• however, mitochondrial DNA content is normal

decreased cardiac muscle contractility ( J:216539 )

• progressive decrease in ejection fraction from P6 to P11

• M-mode echocardiograms revealed a decline in fractional shortening at P11

• however, no increase of apoptosis in P7 ventricles, as shown by TUNEL assays

cardiomyopathy ( J:216539 )

• neonatal cardiomyopathy due to failure of the newborn myocardium to transition normally from fetal to mature (oxidative) metabolism

growth/size/body

enlarged heart ( J:216539 )

increased heart weight ( J:216539 )

• increased heart weight to tibia length ratio relative to wild-type controls

Genotype
MGI:3778203

cn7

• Allelic Composition: Notch2^tm3Grid/Notch2^tm3.1Grid; Tg(Tagln-cre)1Her/?
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:132939 )

• there is a 50% mortality rate between birth and weaning

cardiovascular system

pulmonary artery stenosis ( J:132939 )

• pulmonary arteries of E18.5 embryos and newborns are significantly smaller

aorta stenosis ( J:132939 )

• aorta diameters of all E18.5 embryos and newborns are decreased compared to wild-type mice

abnormal blood flow velocity ( J:132939 )

• mean aortic velocity in one month old mice is 1.74 m/s which is significantly faster than the mean velocity of 0.93 m/s for controls

• mean pulmonary velocity in one month old mice is 1.9 m/s which is significantly faster than the mean velocity of 1.5 m/s for controls

homeostasis/metabolism

cyanosis ( J:132939 )

• is observed in neonates

Genotype
MGI:5007818

cn8

• Allelic Composition: Gt(ROSA)26Sor^{tm1(NOTCH3)Sat}/Gt(ROSA)26Sor⁺; Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:171887 )

N • increased susceptibility to ischemic injury seen in Notch3 null mice is rescued by expression of the human NOTCH3

Genotype
MGI:3767614

cn9

• Allelic Composition: Tgfbr2^tm1Karl/Tgfbr2^tm1Karl; Tg(Tagln-cre)1Her/?; Gt(ROSA)26Sor^tm1Sor/?
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:128498 )

• mice die between E12.5 and E16.5; only resorbed homozygous embryos are recovered at E16.5

embryo

abnormal vitelline vasculature morphology ( J:128498 )

• while yolk sacs are normal at E9.5 by E12.5 yolk sacs are pale, anemic and possess obvious vasculature defects

embryonic growth retardation ( J:128498 )

pale yolk sac ( J:128498 )

• at E12.5, yolk sacs are pale and anemic

growth/size/body

embryonic growth retardation ( J:128498 )

cardiovascular system

abnormal vitelline vasculature morphology ( J:128498 )

• while yolk sacs are normal at E9.5 by E12.5 yolk sacs are pale, anemic and possess obvious vasculature defects

abnormal heart morphology ( J:128498 )

delayed heart development ( J:128498 )

• mice exhibit delayed underdeveloped hearts

nervous system

delayed brain development ( J:128498 )

• mice exhibit delayed underdeveloped brains

Genotype
MGI:5007810

cn10

• Allelic Composition: Gt(ROSA)26Sor^{tm3(NOTCH3*R1031C)Sat}/Gt(ROSA)26Sor⁺; Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

homeostasis/metabolism

increased susceptibility to ischemic brain injury ( J:171887 )

• increased susceptibility to ischemic injury seen in Notch3 null mice is not rescued by expression of the mutant human NOTCH3 at 1 year of age but is rescued at 3 to 6 months of age

nervous system

increased susceptibility to ischemic brain injury ( J:171887 )

• increased susceptibility to ischemic injury seen in Notch3 null mice is not rescued by expression of the mutant human NOTCH3 at 1 year of age but is rescued at 3 to 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:171887

Genotype
MGI:5007812

cn11

• Allelic Composition: Gt(ROSA)26Sor^{tm2(NOTCH3*C455R)Sat}/Gt(ROSA)26Sor⁺; Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Vascular smooth muscle cell abnormalities in Gt(ROSA)26Sor^{tm3(NOTCH3*R1031C)Sat}/Gt(ROSA)26Sor⁺ Tg(Tagln-cre)1Her/0 and Gt(ROSA)26Sor^{tm2(NOTCH3*C455R)Sat}/Gt(ROSA)26Sor⁺ Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg} Tg(Tagln-cre)1Her/0 mice

cardiovascular system

abnormal vascular smooth muscle morphology ( J:171887 )

• vascular smooth muscle cell abnormalities with intracellular inclusions are seen at 6 months of age

homeostasis/metabolism

increased susceptibility to ischemic brain injury ( J:171887 )

• increased susceptibility to ischemic injury seen in Notch3 null mice is not rescued by expression of the mutant human NOTCH3

muscle

abnormal vascular smooth muscle morphology ( J:171887 )

• vascular smooth muscle cell abnormalities with intracellular inclusions are seen at 6 months of age

nervous system

increased susceptibility to ischemic brain injury ( J:171887 )

• increased susceptibility to ischemic injury seen in Notch3 null mice is not rescued by expression of the mutant human NOTCH3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:171887

Genotype
MGI:4830996

cn12

• Allelic Composition: Gt(ROSA)26Sor^{tm1(NOTCH3)Sat}/Gt(ROSA)26Sor⁺; Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

homeostasis/metabolism

decreased cerebral infarct size ( J:133358 )

• following filament middle cerebral artery occlusion, mice exhibit reduced infarct volume compared with similarly treated Notch3^{Gt(PST033)Byg} homozygotes

nervous system

decreased cerebral infarct size ( J:133358 )

• following filament middle cerebral artery occlusion, mice exhibit reduced infarct volume compared with similarly treated Notch3^{Gt(PST033)Byg} homozygotes

Genotype
MGI:5585151

cn13

• Allelic Composition: Agtr2^tm1Tin/Y; Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

cardiovascular system

abnormal aorta smooth muscle morphology ( J:213282 )

• hyperproliferation and disarray of aorta smooth muscle cells at 3 months of age

increased aorta wall thickness ( J:213282 )

• the medium of the aortic wall is thicker than in single Agtr2 mutants, with hyperproliferation and disarray of smooth muscle cells at 3 months of age

ascending aorta aneurysm ( J:213282 )

• mice develop aneurysms

• treatment with losartan completely prevents aneurysms

muscle

abnormal aorta smooth muscle morphology ( J:213282 )

• hyperproliferation and disarray of aorta smooth muscle cells at 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic aneurysm		DOID:3627		J:213282

Genotype
MGI:5585152

cn14

• Allelic Composition: Agtr1a^tm1Unc/Agtr1a^tm1Unc; Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

cardiovascular system

increased aorta wall thickness ( J:213282 )

• aortic wall is thicker at 3 months of age compared to single Agtr1a homozygotes

Genotype
MGI:5319080

cn15

• Allelic Composition: Tbxa2r^tm1Cof/Tbxa2r^tm1.1Bhk; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

respiratory system

abnormal airway resistance ( J:183333 )

• mice exposed to increasing doses of thromboxane receptor agonist U-46619 exhibit an attenuated dose-dependent increase in airway resistance unlike control mice

• mice exposed to U-46619 and methacholine exhibit less of an increased in airway resistance compared with control mice

• however, mice exposed ovalbumin and U-46619 exhibit dose-dependent increase in airway resistance

Genotype
MGI:3710360

cn16

• Allelic Composition: Smad5^tm1Huy/Smad5^tm1.1Huy; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

cardiovascular system

dilated heart ( J:121072 )

• mild dilation of the heart

• no cardiomyopathy, cardiac hypertrophy, or differences in heart rate and have normal blood vessel development, blood vessel morphology in adults, angiogenesis and vascular remodeling response

decreased cardiac muscle contractility ( J:121072 )

♀ • at 9 months of age, females, but not males, show larger systolic and diastolic LV internal diameters and decreased fractional shortening, indicating decreased cardiac contractility

homeostasis/metabolism

impaired exercise endurance ( J:121072 )

♀ • females, but not males, perform worse in a treadmill experiment

muscle

decreased cardiac muscle contractility ( J:121072 )

♀ • at 9 months of age, females, but not males, show larger systolic and diastolic LV internal diameters and decreased fractional shortening, indicating decreased cardiac contractility

behavior/neurological

impaired exercise endurance ( J:121072 )

♀ • females, but not males, perform worse in a treadmill experiment

Genotype
MGI:4410315

cn17

• Allelic Composition: Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

cardiovascular system

abnormal aorta elastic tissue morphology ( J:154659 )

• at P0, the aortic laminae is disrupted unlike in wild-type mice

• at P14, the elastic laminae is disrupted unlike in wild-type mice

• at 12 weeks, aorta are less distensible than in wild-type mice

• mice loss the internal elastic lamina in the ascending aorta unlike wild-type mice

abnormal aortic arch morphology ( J:154659 )

• slightly elongated

ascending aorta aneurysm ( J:154659 )

• severe ascending aortic aneurysms

dilated ascending aorta ( J:154659 )

• the ascending aorta from the aortic root to just distal to the branching point of the brachiocephalic artery is dilated

• however, no aortic stenosis is observed

heart left ventricle hypertrophy ( J:154659 )

aortic valve regurgitation ( J:154659 )

abnormal blood vessel physiology ( J:154659 )

• at 12 weeks, aorta are less distensible and stiffer than in wild-type mice

growth/size/body

heart left ventricle hypertrophy ( J:154659 )

muscle

heart left ventricle hypertrophy ( J:154659 )

Genotype
MGI:5576877

cn18

• Allelic Composition: Prdm6^tm1.1Jrld/Prdm6^tm1.2Jrld; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Massive hemorrhage in Prdm6^tm1.1Jrld/Prdm6^tm1.2Jrld; Tg(Tagln-cre)1Her lungs

mortality/aging

postnatal lethality, complete penetrance ( J:209773 )

• newborn mice die within 2 days after birth

neonatal lethality, incomplete penetrance ( J:209773 )

• newborn mice die within 2 days after birth

cardiovascular system

lung hemorrhage ( J:209773 )

• massive

respiratory system

lung hemorrhage ( J:209773 )

• massive

Genotype
MGI:5775294

cn19

• Allelic Composition: Eng^tm2.1Hma/Eng^tm2.1Hma; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

cardiovascular system

abnormal blood vessel morphology ( J:212952 )

• dilated and dysmorphic vessels in brains of 5 week old mice

arteriovenous malformation ( J:212952 )

• 90% of 5 week old mice exhibit arteriovenous malformations with greatly enlarged and tortuous vessels in the brain

• more than 80% of mice have one arteriovenous malformation lesion, while the remaining 20% have 2-3 lesions

• arteriovenous (A-V) shunting and hemorrhage are seen in some brain and spinal cord lesions

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

hemorrhage ( J:212952 )

• hemorrhage is seen in some brain and spinal cord lesions

• macrophages and microhemorrhage are seen around dysplastic vessels in the brain

digestive/alimentary system

gastrointestinal arteriovenous malformation ( J:212952 )

• arteriovenous malformations are also seen in the spinal cord and intestine

mortality/aging

premature death ( J:212952 )

• more than 50% of mice before 6 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hemorrhagic telangiectasia		DOID:1270	OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506	J:212952

Genotype
MGI:5570433

cn20

• Allelic Composition: Ptges^tm1.1Gaf/Ptges^tm1.1Gaf; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

homeostasis/metabolism

abnormal vascular wound healing ( J:210141 )

• following wire injury, mice exhibit accelerated intimal hyperplasia with increased intima to media ratio and stenosis percent compared with control mice

decreased prostaglandin level ( J:210141 )

• decreased IL1beta-stimulated prostaglandin E2

increased prostaglandin level ( J:210141 )

• increased IL1beta-stimulated prostaglandin D2 and I2 levels

cardiovascular system

cardiovascular system phenotype ( J:210141 )

N • whether fed standard chow or a high salt diet, mice exhibit normal modulation of blood pressure and thrombogenesis

abnormal vascular wound healing ( J:210141 )

• following wire injury, mice exhibit accelerated intimal hyperplasia with increased intima to media ratio and stenosis percent compared with control mice

Genotype
MGI:2652140

cn21

• Allelic Composition: Npr1^tm1Kuhn/Npr1^tm1Kuhn; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

abnormal systemic arterial blood pressure ( J:76460 )

• unlike hypertensive homozygous null mice, conscious conditional mutants exhibit normal chronic arterial BPs under resting conditions, despite abolition of vasorelaxing responses to ANP

• however, infusion of ANP at a dose of 500 ng/kg BW fails to lower arterial BP in conscious conditional mutants but significantly reduces systolic and diastolic BP in wild-type and homozygous Npr1^tm1Kuhn mice

• notably, acute vascular volume expansion results in a rapid, significant increase in systolic BP and slight increase in diastolic BP during the 15 min of high-volume infusion; such changes are fully reversible 10 min after volume overload and are absent in homozygous Npr1^tm1Kuhn mice

abnormal vasodilation ( J:76460 )

• vasorelaxing responses to atrial natriuretic peptide (ANP) are abolished in isolated preconstricted arteries from conditional mutant mice

• small relaxation in response to high ANP concentrations, also observed in phenylephrine (PE)-contracted arteries in the absence of ANP, indicating a spontaneous (ANP-independent) loss of tone

muscle

abnormal vasodilation ( J:76460 )

• vasorelaxing responses to atrial natriuretic peptide (ANP) are abolished in isolated preconstricted arteries from conditional mutant mice

• small relaxation in response to high ANP concentrations, also observed in phenylephrine (PE)-contracted arteries in the absence of ANP, indicating a spontaneous (ANP-independent) loss of tone

Genotype
MGI:5559203

cn22

• Allelic Composition: Ntf3^tm1Par/Ntf3^tm2Jae; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

behavior/neurological

abnormal eating behavior ( J:201812 )

• mice exhibit increased meal duration with reduced rate of food intake compared with control mice

• mice exhibit a satiation deficit compared with control mice

• however, mice exhibit normal meal size and oropharyngeal-positive feedback signaling

nervous system

abnormal nervous system physiology ( J:201812 )

• mice exhibit reduced solitary tract nucleus and area postrema meal-induced c-Fos activation, suggesting a decrease in vagal afferent signaling, compared with control mice

growth/size/body

growth/size/body region phenotype ( J:201812 )

N • mice exhibit normal body weight

Genotype
MGI:5559202

cn23

• Allelic Composition: Ntf3^tm2Jae/Ntf3⁺; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

behavior/neurological

abnormal eating behavior ( J:201812 )

• mice exhibit increased meal duration with reduced rate of food intake compared with control mice

• however, meal size is normal

Genotype
MGI:4867007

cn24

• Allelic Composition: Jag1^tm1Grid/Jag1^tm2Grid; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:166769 )

• no mutants survive past P2

perinatal lethality, incomplete penetrance ( J:166769 )

• 50% of mutants die by P1

cardiovascular system

retroesophageal right subclavian artery ( J:166769 )

• seen in some mutants

patent ductus arteriosus ( J:166769 )

• 95% of mutants exhibit patent ductus arteriosus

abnormal vascular smooth muscle morphology ( J:166769 )

• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

homeostasis/metabolism

cyanosis ( J:166769 )

muscle

abnormal vascular smooth muscle morphology ( J:166769 )

• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

cellular

patent ductus arteriosus ( J:166769 )

• 95% of mutants exhibit patent ductus arteriosus

Genotype
MGI:5499119

cn25

• Allelic Composition: Pros1^tm1Grl/Pros1^tm1Grl; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S1/SvImJ * C57BL/6 * SJL

cardiovascular system

increased vascular permeability ( J:198769 )

• in the liver

Genotype
MGI:5007819

cn26

• Allelic Composition: Gt(ROSA)26Sor^{tm3(NOTCH3*R1031C)Sat}/Gt(ROSA)26Sor⁺; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL

Vascular smooth muscle cell abnormalities in Gt(ROSA)26Sor^{tm3(NOTCH3*R1031C)Sat}/Gt(ROSA)26Sor⁺ Tg(Tagln-cre)1Her/0 and Gt(ROSA)26Sor^{tm2(NOTCH3*C455R)Sat}/Gt(ROSA)26Sor⁺ Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg} Tg(Tagln-cre)1Her/0 mice

cardiovascular system

abnormal aorta morphology ( J:171887 )

• thinning of the vascular smooth muscle layers

abnormal brain vasculature morphology ( J:171887 )

• osmiophilic granular deposits in mice older than 12 months of age

abnormal vascular smooth muscle morphology ( J:171887 )

• vascular smooth muscle cell abnormalities with intracellular inclusions and lipid droplets that get more severe with age

• thinning of the vascular smooth muscle layers

muscle

abnormal vascular smooth muscle morphology ( J:171887 )

• vascular smooth muscle cell abnormalities with intracellular inclusions and lipid droplets that get more severe with age

• thinning of the vascular smooth muscle layers

nervous system

abnormal brain vasculature morphology ( J:171887 )

• osmiophilic granular deposits in mice older than 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:171887

Genotype
MGI:5444198

cn27

• Allelic Composition: Pparg^tm2Rev/Pparg^tm2Rev; Tg(Tagln-cre)1Her/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

cardiovascular system

abnormal pulmonary artery morphology ( J:136168 )

• increased muscularization of pulmonary arteries at the alveolar wall

heart right ventricle hypertrophy ( J:136168 )

increased right ventricle systolic pressure ( J:136168 )

• elevated right ventricular systolic pressure

growth/size/body

heart right ventricle hypertrophy ( J:136168 )

muscle

heart right ventricle hypertrophy ( J:136168 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary pulmonary hypertension		DOID:14557	OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344	J:136168

Genotype
MGI:5140930

cn28

• Allelic Composition: Pdgfrb^{tm14(Pdgfrb)Sor}/Pdgfrb⁺; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:173602 )

N • mice exhibit normal survival

cardiovascular system

abnormal aorta morphology ( J:173602 )

• mice exhibit alterations in the ascending aorta at 2 weeks that progresses through the arch and descending aorta to affect the entire thoracic and abdominal aorta by 4 weeks unlike in wild-type mice

• mice exhibit reduced periaortic adipose compared to in wild-type mice

abnormal aorta tunica media morphology ( J:173602 )

• thickened

increased aorta wall thickness ( J:173602 )

• authors state that mice exhibit the aorta phenotype observed in mice expressing the floxed allele and Tg(Sox2-cre)1Amc

• however, aorta histology is normal in neonates

abnormal descending aorta morphology ( J:173602 )

• by 4 weeks

abnormal abdominal aorta morphology ( J:173602 )

• by 4 weeks

abnormal thoracic aorta morphology ( J:173602 )

• by 4 weeks

abnormal aortic arch morphology ( J:173602 )

• by 4 weeks

dilated aorta ( J:173602 )

• increased radius

• 2-fold dilation that reaches homeostasis without rupture or apoptosis of vascular smooth muscle cells

abnormal capillary morphology ( J:173602 )

• at P7, retinal capillary size is increased compared to in wild-type mice

• at P12, brain capillary size is increased compared to in wild-type mice

abnormal brain vasculature morphology ( J:173602 )

• reduced vessel density

abnormal retina vasculature morphology ( J:173602 )

• reduced vessel density

abnormal pericyte morphology ( J:173602 )

• pericyte coverage of brain and retinal vasculature is increased compared to in wild-type mice

vascular smooth muscle hyperplasia ( J:173602 )

• mice exhibit increased vascular smooth muscle cell cellularity within the aorta compared with wild-type mice

increased vascular smooth muscle cell proliferation ( J:173602 )

• at E18.5, mice exhibit increased vascular smooth muscle cell (VSMC) proliferation in the aorta compared with wild-type mice

• cultured aorta release >4-fold more VSMCs due to increased proliferation compared with wild-type cultures

adipose tissue

abnormal adipose tissue morphology ( J:173602 )

• mice exhibit reduced periaortic adipose compared to in wild-type mice

growth/size/body

growth/size/body region phenotype ( J:173602 )

N • mice exhibit normal growth

muscle

vascular smooth muscle hyperplasia ( J:173602 )

• mice exhibit increased vascular smooth muscle cell cellularity within the aorta compared with wild-type mice

increased vascular smooth muscle cell proliferation ( J:173602 )

• at E18.5, mice exhibit increased vascular smooth muscle cell (VSMC) proliferation in the aorta compared with wild-type mice

• cultured aorta release >4-fold more VSMCs due to increased proliferation compared with wild-type cultures

nervous system

abnormal brain vasculature morphology ( J:173602 )

• reduced vessel density

vision/eye

abnormal retina vasculature morphology ( J:173602 )

• reduced vessel density

cellular

increased vascular smooth muscle cell proliferation ( J:173602 )

• at E18.5, mice exhibit increased vascular smooth muscle cell (VSMC) proliferation in the aorta compared with wild-type mice

• cultured aorta release >4-fold more VSMCs due to increased proliferation compared with wild-type cultures

Genotype
MGI:4947945

cn29

• Allelic Composition: Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

premature death ( J:170883 )

• mice die at 2 months of age

cardiovascular system

abnormal aorta wall morphology ( J:213282 )

• increase in proliferation of aorta vessel wall at 1 month of age

• vessel area is increased in the aorta

abnormal aorta tunica media morphology ( J:170883 )

• increased in thickness

abnormal aorta elastic fiber morphology ( J:170883 )

• disorganized

abnormal aorta smooth muscle morphology ( J:213282 )

• smooth muscle cells of the aorta are abnormal by P14 and their proliferation extends throughout the medial layer

• hyperproliferation and disarray of smooth muscle cells in the ascending aorta wall at 3 months of age

abnormal ascending aorta morphology ( J:170883 , J:213282 )

• focal lesions with thickened aortic wall (J:170883)

• increased collagen fibers (J:170883)

• cellularity in the aorta is increased by P7, especially in the subendothelial layer and near the adventitia (J:213282)

ascending aorta aneurysm ( J:170883 , J:213282 )

• captopril, an ACE inhibitor, or losartan treatment of pregnant females and continued until 3 months of age, completely prevents aneurysm formation and hyperproliferaton and disarray of smooth muscle cells in the aortic wall, however amount of collagen is decreased, and elastic fibers remain irregular (J:213282)

• administration of losartan starting at P7 completely prevents aneurysms, however administration from P30 to P90 does not prevent aneurysms (J:213282)

• however, propranolol, a beta-adrenergic receptor blocker, treatment shows modest inhibitory effects on aneurysm formation (J:213282)

dilated ascending aorta ( J:213282 )

• slight dilatation of the ascending aorta is seen at P14

abnormal vascular smooth muscle morphology ( J:170883 )

• vascular smooth muscle cells exhibit defective differentiation compared to in wild-type mice

increased pulse pressure ( J:213282 )

• pulse pressures are increased 50%

• captopril treatment decreases this increase in pulse pressure

decreased systemic arterial diastolic blood pressure ( J:213282 )

• mice show a trend toward lower average diastolic pressures

• captopril treatment decreases systolic blood pressures about 20% in mutants, however losartan or propranolol have no effect on blood pressure

abnormal blood vessel physiology ( J:213282 )

• compliance of the ascending aorta is decreased 60-80% in the middle-to high-pressure range (75-175 mmHg), indicating that the vessel wall is stiffer

• treatment with losartan or captopril does not completely reverse the increase in vessel wall stiffness

muscle

abnormal vascular smooth muscle morphology ( J:170883 )

• vascular smooth muscle cells exhibit defective differentiation compared to in wild-type mice

abnormal aorta smooth muscle morphology ( J:213282 )

• smooth muscle cells of the aorta are abnormal by P14 and their proliferation extends throughout the medial layer

• hyperproliferation and disarray of smooth muscle cells in the ascending aorta wall at 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic aneurysm		DOID:3627		J:213282

Genotype
MGI:3711335

cn30

• Allelic Composition: Hey2^tm1Eno/Hey2^tm2Eno; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:121577 )

• mice display partial perinatal lethality

cardiovascular system

ventricular septal defect ( J:121577 )

• VSDs are observed

dilated heart right ventricle ( J:121577 )

decreased cardiac muscle contractility ( J:121577 )

• contractile dysfunction observed

muscle

decreased cardiac muscle contractility ( J:121577 )

• contractile dysfunction observed

Genotype
MGI:4366031

cn31

• Allelic Composition: Ppp3r1^tm2Grc/Ppp3r1^tm2Grc; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:153636 )

N • mice are grossly normal and display normal coronary endothelial patterning at E12.5; mice live to adulthood and are indistinguishable from wild-type littermates

Genotype
MGI:5471581

cn32

• Allelic Composition: Lrp1^tm2Her/Lrp1^tm2Her; Tg(APP695)3Dbo/0; Tg(PSEN1)5Dbo/0; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6 * C57BL/6J * SJL

nervous system

amyloid beta deposits ( J:192453 )

• amyloid beta deposition in the brains is higher than in controls with only Tg(PSEN1)5Dbo and Tg(APP69ff5)3Dbo at 13-14 months of age

• amyloid beta deposition is seen in the cortical parenchyma and in cortical vessels as cerebral amyloid angiopathy

• concentrations of insoluble amyloid beta40 and amyloid beta42 is higher than in controls at 13-14 months of age but not at 3 months

• despite the increase in amyloid beta deposition, APP processing and levels of amyloid beta degrading enzymes are normal, indicating that the increase is due to a disturbance of lysosomal-mediated amyloid beta clearance

cerebral amyloid angiopathy ( J:192453 )

• amyloid beta deposition is seen in cortical vessels as cerebral amyloid angiopathy

astrocytosis ( J:192453 )

• activation of astrocytes is enhanced compared to controls with only Tg(PSEN1)5Dbo and Tg(APP69ff5)3Dbo at 1 year of age

homeostasis/metabolism

amyloid beta deposits ( J:192453 )

• amyloid beta deposition in the brains is higher than in controls with only Tg(PSEN1)5Dbo and Tg(APP69ff5)3Dbo at 13-14 months of age

• amyloid beta deposition is seen in the cortical parenchyma and in cortical vessels as cerebral amyloid angiopathy

• concentrations of insoluble amyloid beta40 and amyloid beta42 is higher than in controls at 13-14 months of age but not at 3 months

• despite the increase in amyloid beta deposition, APP processing and levels of amyloid beta degrading enzymes are normal, indicating that the increase is due to a disturbance of lysosomal-mediated amyloid beta clearance

cerebral amyloid angiopathy ( J:192453 )

• amyloid beta deposition is seen in cortical vessels as cerebral amyloid angiopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:192453
cerebral amyloid angiopathy		DOID:9246		J:192453

Genotype
MGI:5473320

cn33

• Allelic Composition: Rxfp2^tm1Aia/Rxfp2^{tm1c(EUCOMM)Wtsi}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N * SJL

reproductive system

reproductive system phenotype ( J:194006 )

N • mice exhibit normal testis position

Genotype
MGI:4946109

cn34

• Allelic Composition: Agtr1a^tm1Uky/Agtr1a^tm1Uky; Ldlr^tm1Her/Ldlr^tm1Her; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6N * SJL

cardiovascular system

cardiovascular system phenotype ( J:170230 )

N • mice fed a high-fat diet exhibit the same amount of angiotensin-induced expansion of ascending aortas and aneurysms as in similarly treated Ldlr^tm1Her homozygotes

Genotype
MGI:4943557

cn35

• Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her; Lrp1^tm2Her/Lrp1^tm2Her; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL

cardiovascular system

abnormal aorta elastic tissue morphology ( J:82871 )

• grossly disrupted

increased aorta wall thickness ( J:82871 )

• progressive thickening of the aorta wall with age

• thickening is primarily caused by increased smooth muscle cell proliferation

dilated aorta ( J:82871 )

• aortas are consistently distended and dilated

aortic aneurysm ( J:82871 )

abdominal aorta aneurysm ( J:82871 )

atherosclerotic lesions ( J:82871 )

• pronounced atherosclerosis is seen in the aorta

increased susceptibility to atherosclerosis ( J:82871 )

• on a high cholesterol diet

• addition of Gleevec to the diet protects against atherosclerotic lesion formation

artery occlusion ( J:82871 )

• almost complete occlusion of the mesenteric arteries

increased vascular smooth muscle cell proliferation ( J:82871 )

• increase in vascular smooth muscle cell proliferation

cellular

increased vascular smooth muscle cell proliferation ( J:82871 )

• increase in vascular smooth muscle cell proliferation

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:82871 )

N • no changes in cholesterol or triglyceride levels are detected compared to mice homozygous for Ldlr^tm1Her alone

muscle

increased vascular smooth muscle cell proliferation ( J:82871 )

• increase in vascular smooth muscle cell proliferation

Genotype
MGI:6102946

cn36

• Allelic Composition: Lrp1^tm2Her/Lrp1^tm2Her; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

cardiovascular system

abnormal ascending aorta morphology ( J:209752 )

• ascending aortas are characterized by increased cell nuclei and fractured elastic laminae and show progressive intra-lamellar thickening, extracellular matrix deposition, and cellular disorganization

• medial layers of the ascending aorta exhibits increased cellular and intracellular accumulation of connective tissue growth factor

dilated ascending aorta ( J:209752 )

• dilated ascending aortas in mice older than 36 weeks of age

dilated aorta bulb ( J:209752 )

• dilation of aortic roots is seen beginning at 16 weeks of age and progresses with age

abnormal coronary artery morphology ( J:209752 )

• coronary arteries within the left ventricle show accumulation of collagen within the tunica media and adventitia

perivascular fibrosis ( J:209752 )

• increase in perivascular fibrosis with outward extension of fibrotic lesions surrounding intramural coronary arteries in 48 week old mice

• extensive and continuous fibrotic lesions tracts extending outward from coronary arteries are sporadically seen in ventricle walls

abnormal myocardial fiber morphology ( J:209752 )

• increase in myocyte longitudinal area in parenchymal regions of the left ventricle free wall in 48 week old mice

enlarged heart ( J:209752 )

• increase in heart size in mice older than 36 weeks of age

increased heart weight ( J:209752 )

• heart weight to body weight ratios are increased throughout the age range from 16 to 70 weeks of age

increased heart left ventricle size ( J:209752 )

• left ventricle enlargement in 48 week old mice

dilated heart left ventricle ( J:209752 )

cardiac interstitial fibrosis ( J:209752 )

• interstitial fibrosis in intramural coronary arteries of left ventricle free wall and extensive fibrosis in left ventricle papillary muscles

• however, no pericellular fibrosis is seen

dilated cardiomyopathy ( J:209752 )

decreased cardiac muscle contractility ( J:209752 )

• a 38% reduction in fractional shortening and 43% reduction in ejection fraction

abnormal heart echocardiography feature ( J:209752 )

• echocardiography shows a reduction in systolic function, with a 38% reduction in fractional shortening, 43% reduction in ejection fraction, and 68% increase in left ventricular diameter in 36 week old mice

aortic valve regurgitation ( J:209752 )

• mice show age-dependent increase in incidence of aortic insufficiency, with all mice showing it at 30 weeks of age

increased pulse pressure ( J:209752 )

• 24 week old mice exhibit a 44% higher pulse pressure than controls

• captopril treatment reduces pulse pressure to levels seen in untreated control mice

decreased systemic arterial diastolic blood pressure ( J:209752 )

• 16% reduction in diastolic pressure in 24 week old mice

• however, systolic blood pressure is normal

muscle

abnormal myocardial fiber morphology ( J:209752 )

• increase in myocyte longitudinal area in parenchymal regions of the left ventricle free wall in 48 week old mice

dilated cardiomyopathy ( J:209752 )

decreased cardiac muscle contractility ( J:209752 )

• a 38% reduction in fractional shortening and 43% reduction in ejection fraction

growth/size/body

enlarged heart ( J:209752 )

• increase in heart size in mice older than 36 weeks of age

increased heart weight ( J:209752 )

• heart weight to body weight ratios are increased throughout the age range from 16 to 70 weeks of age

cellular

cardiac interstitial fibrosis ( J:209752 )

• interstitial fibrosis in intramural coronary arteries of left ventricle free wall and extensive fibrosis in left ventricle papillary muscles

• however, no pericellular fibrosis is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:209752

Genotype
MGI:5702755

cn37

• Allelic Composition: Rock2^tm1.1Itl/Rock2^tm1.1Itl; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6J * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:222206 )

• time of lethality not specified

Genotype
MGI:5296817

cn38

• Allelic Composition: Atp1a2^tm4.1Ling/Atp1a2^tm4.1Ling; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: Black Swiss * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:177051 )

N • mice exhibit normal basal cardiac and vascular function

increased heart weight ( J:177051 )

• slight at 8 months of age

cardiac hypertrophy ( J:177051 )

• mild at 8 months of age

abnormal systemic arterial blood pressure ( J:177051 )

• mice fail to develop ACTH- or ouabain-induced hypertension unlike similarly treated wild-type mice

• however, basal systemic blood pressure is normal

growth/size/body

increased heart weight ( J:177051 )

• slight at 8 months of age

cardiac hypertrophy ( J:177051 )

• mild at 8 months of age

Genotype
MGI:5910538

cn39

• Allelic Composition: Tg(CMV-cat,-ROCK2*)3-1Koba/0; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * C57BL/6JJcl * DBA/2 * SJL

mortality/aging

premature death ( J:242116 )

• 34.6% of mice die suddenly by 1 year of age

postnatal lethality, incomplete penetrance ( J:242116 )

• some sudden death of several pups before weaning at 4 weeks of age is seen

cardiovascular system

abnormal aorta morphology ( J:242116 )

• aortas are thinner

abnormal intercalated disk morphology ( J:242116 )

• widening of the gaps at the intercalated discs in the myocardium of 25 week old mice

• desmosomes are less electron-dense than in controls at 25 weeks of age and the gap width at the desmosomes is increased

• distribution of desmosomal proteins is altered

disorganized myocardium ( J:242116 )

• right ventricle shows disorganized myocardial structure with poorly defined cell junctional areas

myocardium steatosis ( J:242116 )

• massive fat accumulation in the right ventricle free wall adjacent to areas of fibrosis is seen in 19 week old mice

increased heart weight ( J:242116 )

• heart weight to body weight ratio is increased

abnormal heart ventricle morphology ( J:242116 )

• ventricular weight to body weight ratio is increased

thin interventricular septum ( J:242116 )

• thinning of interventricular septum of the hearts of E12.5 and E14.5 embryos

abnormal heart right ventricle morphology ( J:242116 )

• massive fat accumulation in the right ventricle free wall adjacent to areas of fibrosis is seen in 19 week old mice

thin ventricular wall ( J:242116 )

• thinning of ventricular walls of the hearts of E12.5 and E14.5 embryos

cardiac fibrosis ( J:242116 )

• myocardial fibrotic changes are first evident at P3 in both the right and left ventricles

• fibrosis is initially seen in epicardial and perivascular regions of the ventricles, progressing to adjacent myocardium with age and involving the entire thickness of the right ventricle free wall at 19 weeks of age

dilated heart ( J:242116 )

• hearts are markedly dilated as early as P3, with dilatation more prominent in the right ventricle and is progressive with age

dilated heart ventricle ( J:242116 )

• progressive ventricular dilatation and thinning from P3

decreased heart left ventricle muscle contractility ( J:242116 )

• reduction in left ventricle ejection fraction and fractional shortening

abnormal fetal cardiomyocyte proliferation ( J:242116 )

• reduction in the number of proliferating cardiomyocytes in the ventricular walls and interventricular septum (both in compact layer and trabeculated layer) in E12.5 hearts

• however, apoptosis levels are normal

abnormal heart echocardiography feature ( J:242116 )

• echocardiography indicates dilated ventricular chambers, increased right ventricle and left ventricle dimensions, and reduced left ventricle ejection fraction and fractional shortening

irregular heartbeat ( J:242116 )

• mice frequently exhibit spontaneous ventricular arrhythmias, evident as long frequent runs of ventricular extrasystoles characterized by widened QRS complexes with no apparent association with the P waves

prolonged PR interval ( J:242116 )

prolonged QRS complex duration ( J:242116 )

abnormal myocardial fiber physiology ( J:242116 )

• reduction in the number of proliferating cardiomyocytes in the ventricular walls and interventricular septum (both in compact layer and trabeculated layer) in adult hearts

decreased systemic arterial systolic blood pressure ( J:242116 )

• systolic blood pressure is lower

ventricular cardiomyopathy ( J:242116 )

• mice develop arrhythmogenic right ventricular cardiomyopathy

cellular

abnormal fetal cardiomyocyte proliferation ( J:242116 )

• reduction in the number of proliferating cardiomyocytes in the ventricular walls and interventricular septum (both in compact layer and trabeculated layer) in E12.5 hearts

• however, apoptosis levels are normal

muscle

abnormal intercalated disk morphology ( J:242116 )

• widening of the gaps at the intercalated discs in the myocardium of 25 week old mice

• desmosomes are less electron-dense than in controls at 25 weeks of age and the gap width at the desmosomes is increased

• distribution of desmosomal proteins is altered

disorganized myocardium ( J:242116 )

• right ventricle shows disorganized myocardial structure with poorly defined cell junctional areas

myocardium steatosis ( J:242116 )

• massive fat accumulation in the right ventricle free wall adjacent to areas of fibrosis is seen in 19 week old mice

decreased heart left ventricle muscle contractility ( J:242116 )

• reduction in left ventricle ejection fraction and fractional shortening

abnormal fetal cardiomyocyte proliferation ( J:242116 )

• reduction in the number of proliferating cardiomyocytes in the ventricular walls and interventricular septum (both in compact layer and trabeculated layer) in E12.5 hearts

• however, apoptosis levels are normal

ventricular cardiomyopathy ( J:242116 )

• mice develop arrhythmogenic right ventricular cardiomyopathy

growth/size/body

increased heart weight ( J:242116 )

• heart weight to body weight ratio is increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular cardiomyopathy		DOID:0050431	OMIM:PS107970	J:242116

Genotype
MGI:4946108

cn40

• Allelic Composition: Agtr1a^tm1Uky/Agtr1a^tm1Uky; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

cardiovascular system

cardiovascular system phenotype ( J:170230 )

N • mice exhibit normal aortic structure

Genotype
MGI:5796351

cn41

• Allelic Composition: Commd9^{tm1c(KOMP)Wtsi}/Commd9^{tm1c(KOMP)Wtsi}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL
• Cell Lines: EPD0136_6_D10

mortality/aging

mortality/aging ( J:230747 )

N • all mice are viable at birth

Genotype
MGI:5707856

cn42

• Allelic Composition: Gata5^tm1.1Nemr/Gata5^tm1.1Nemr; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:227997 )

N • mice exhibit normal blood pressure and vasodilatory response to acetylcholine

Genotype
MGI:7536982

cn43

• Allelic Composition: Best3^tm1.1Zhoj/Best3^tm1.1Zhoj; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:338981 )

• treatment with angiotensin II to induce hypertension induced mortality in 32.3% of mice, similar treatment induced no deaths in controls

premature death ( J:338981 )

• some die suddenly at 8 weeks of age

• gradual increase in mortality with age with 13 of 30 mice dying before 72 weeks of age

• treatment with ponatinib, which inhibits MEKK3 and MEKK2 signaling, increases survival rates

cardiovascular system

abnormal aorta morphology ( J:338981 )

abnormal aorta wall morphology ( J:338981 )

• false lumen formation, intramural hematomas and dissections at 8 weeks of age

• media thickness, disorganization, and decreased expression of cyto-skeletal protein are seen before and after angiotensin II treatment

abnormal aorta tunica media morphology ( J:338981 )

• decreased thickness

abnormal aorta elastic tissue morphology ( J:338981 )

• disruption and degradation of collagen and medial elastic lamina

decreased aorta wall thickness ( J:338981 )

• decreased medial thickness and degradation of the aortic wall

descending aorta dilation ( J:338981 )

• marked increase in diameter of the abdominal aorta at 8 weeks of age

dilated ascending aorta ( J:338981 )

• marked increase in diameter at 8 weeks of age

aortic dissection ( J:338981 )

• incidence increases with age

• develop aortic hematoma or dissection at 8 weeks of age

• at 24 weeks of age, aortic rupture across the intima and media, dissection of the aortic wall with blood collection between the media and fragmentation the elastic layers are seen

• about 63% of mice receiving angiotensin II develop serious dissections in the aorta arch and abdominal aorta, dissections do not develop in similarly treated controls

aortic aneurysm ( J:338981 )

• dilated aneurysms in the thoracic and abdominal aorta from 24 weeks of age

abdominal aorta aneurysm ( J:338981 )

• from 24 weeks of age

thoracic aorta aneurysm ( J:338981 )

• from 24 weeks of age

internal hemorrhage ( J:338981 )

• mice die of massive hemorrhage in the thoracic or peritoneal cavity

abnormal vascular smooth muscle physiology ( J:338981 )

• increased apoptosis of vascular smooth muscle cells in the aorta

aortitis ( J:338981 )

• increased numbers of CD68-positive macrophages in the aorta indicating involvement of inflammation in the development of aortic dissection

immune system

aortitis ( J:338981 )

• increased numbers of CD68-positive macrophages in the aorta indicating involvement of inflammation in the development of aortic dissection

cellular

increased apoptosis ( J:338981 )

• increased apoptosis of vascular smooth muscle cells in the aorta

muscle

abnormal vascular smooth muscle physiology ( J:338981 )

• increased apoptosis of vascular smooth muscle cells in the aorta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic dissection		DOID:0080685		J:338981

Genotype
MGI:5896388

cn44

• Allelic Composition: Sec24c^{tm1c(EUCOMM)Wtsi}/Sec24c^{tm1c(EUCOMM)Wtsi}; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:232065 )

• viable and fertile

Genotype
MGI:4410314

cn45

• Allelic Composition: Efemp2^tm1.1Tynk/Efemp2^tm1.1Tynk; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal aorta elastic tissue morphology ( J:154659 )

• at P14, the elastic laminae is disrupted unlike in wild-type mice

• at 12 weeks, aorta are less distensible than in wild-type mice

• the elastic laminae is thicker and spongy with aberrant deposits in the interlaminar spaces unlike in wild-type mice

abnormal blood vessel physiology ( J:154659 )

• at 12 weeks, aorta are less distensible and stiffer than in wild-type mice