Phenotypes associated with this allele

• Allele Symbol: Notch3^tm1.1Dwr
• Allele Name: targeted mutation 1.1, Mieke Dewerchin
• Allele ID: MGI:5462093
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Notch3^tm1.1Dwr/Notch3^tm1.1Dwr	involves: 129S/SvEv * Swiss	MGI:5462095
ht2	Notch3^tm1.1Dwr/Notch3^+	involves: 129S/SvEv * Swiss	MGI:5462096

Genotype
MGI:5462095

hm1

• Allelic Composition: Notch3^tm1.1Dwr/Notch3^tm1.1Dwr
• Genetic Background: involves: 129S/SvEv * Swiss

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

behavior/neurological

decreased exploration in new environment ( J:191454 )

• somewhat

abnormal motor capabilities/coordination/movement ( J:191454 )

• in 9 of 73 mice develop overt permanent motor disability, ataxia or both

ataxia ( J:191454 )

• in 9 of 73 mice, 3 of which show staggering ataxic gait

paresis ( J:191454 )

• of one or more limb in 8 of 9 mice with motor disabilities

cardiovascular system

cardiovascular system phenotype ( J:191454 )

N • mice exhibit normal vascular smooth muscle cell remodeling or growth and normal cerebral capillary densities

abnormal artery morphology ( J:191454 )

• mice exhibit arteriopathy with granular osminophilic material deposits in the basal lamina of the arterial smooth muscle cells and surrounding matrix in brain and tail arteries

nervous system

brain lesion ( J:191454 )

• micro-bleeds, hemosiderin deposits or hemosiderin-containing macrophages, perivascular inflammatory infiltration, gliosis, thrombosis, perivascular fibrin(ogen) deposition, microinfarctions characterized by foci with pallor and cell loss around small cystic cavities, and enlargement of the Virchow-Robin spaces creating perivascular lacunae

gliosis ( J:191454 )

• in some mice

homeostasis/metabolism

abnormal brain thrombosis ( J:191454 )

• in the brain vasculature of some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:191454

Genotype
MGI:5462096

ht2

• Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺
• Genetic Background: involves: 129S/SvEv * Swiss

behavior/neurological

decreased exploration in new environment ( J:191454 )

• somewhat

abnormal motor capabilities/coordination/movement ( J:191454 )

• in 9 of 73 mice develop overt permanent motor disability, ataxia or both

ataxia ( J:191454 )

• in 9 of 73 mice, 3 of which show staggering ataxic gait

paresis ( J:191454 )

• of one or more limb in 8 of 9 mice with motor disabilities

cardiovascular system

cardiovascular system phenotype ( J:191454 )

N • mice exhibit normal vascular smooth muscle cell remodeling or growth and normal cerebral capillary densities

abnormal artery morphology ( J:191454 )

• mice exhibit arteriopathy with granular osminophilic material deposits in the basal lamina of the arterial smooth muscle cells and surrounding matrix in brain and tail arteries

nervous system

brain lesion ( J:191454 )

• micro-bleeds, hemosiderin deposits or hemosiderin-containing macrophages, perivascular inflammatory infiltration, gliosis, thrombosis, perivascular fibrin(ogen) deposition, microinfarctions characterized by foci with pallor and cell loss around small cystic cavities, and enlargement of the Virchow-Robin spaces creating perivascular lacunae

gliosis ( J:191454 )

• in some mice

homeostasis/metabolism

abnormal brain thrombosis ( J:191454 )

• in the brain vasculature of some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:191454