Phenotypes Associated with This Genotype

Genotype
MGI:5007819

• 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

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

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