Phenotypes Associated with This Genotype

Genotype
MGI:4430347

• Allelic Composition: Notch3^hpbk/Notch3^hpbk
• Genetic Background: C57BL/6J-Notch3^hpbk/GrsrJ

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

mortality/aging

premature death ( J:157222 )

• sudden death is common in adults

muscle

skeletal muscle atrophy ( J:157222 )

• atrophy in muscles dorsal to the spine kink is reported in 2 homozygotes at 2 months of age, and severe muscle atrophy is reported in 1 homozygote at 4 weeks of age and 3 homozygotes at 10 weeks of age

myopathy ( J:157222 )

• focal myopathy on most muscle groups is reported in 2 mutants at 1 month of age 1 mutant at 4 months of age and 3 mutants at 10 months of age

skeleton

kyphosis ( J:157222 )

• evident by 5 weeks of age

growth/size/body

cachexia ( J:157222 )

• although homozygotes appear normal at wean age they begin to waste by 5 weeks of age

reproductive system

phimosis ( J:157222 )

♂ • in all homozygous males

abnormal pregnancy ( J:157222 )

♀ • although females can become pregnant they are unable to deliver their pups

male infertility ( J:157222 )

♂ • due to phimosis

renal/urinary system

phimosis ( J:157222 )

♂ • in all homozygous males

nervous system

hydrocephaly ( J:157222 )

• mild hydrocephalus is reported in a few homozygotes at one month of age

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:157222 )

impaired hearing ( J:157222 )

• mild hearing loss as assessed by auditory brainstem response at 4 weeks of age, and 2 and 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CADASIL 1		DOID:0111035	OMIM:125310	J:222308