Phenotypes Associated with This Genotype

Genotype
MGI:5007812

• 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

• ♀: 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 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