Phenotypes Associated with This Genotype

Genotype
MGI:3708350

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7⁺
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J

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

Chd7^{Gt(S20-7E1)Sor}/Chd7⁺ mice exhibit defects of the semicircular canals

mortality/aging

postnatal lethality ( J:119812 )

• reduction in survival at weaning

reproductive system

reduced female fertility ( J:119812 )

♀ • decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:119812 )

• variability in the severity of defects in the lateral and posterior semicircular canals is seen between the left and right ears as well as between mice

• however, anterior semicircular canal is normal

absent lateral semicircular canal ( J:119812 )

• in 5 of 8 mice at E16.5

decreased lateral semicircular canal size ( J:119812 )

• severely truncated in 3 of 8 mice at E16.5 with outpouching at the ampulla present and truncation most notably at the nonampullated end

absent posterior semicircular canal ( J:119812 )

• in 4 of 8 mice at E16.5

decreased posterior semicircular canal size ( J:119812 )

• variable severity of truncations of the canal and reduction in size of the ampulla in 4 of 8 mice

behavior/neurological

head bobbing ( J:119812 )

• 24% of F2 offspring exhibit head-bobbing

hyperactivity ( J:119812 )

circling ( J:119812 )

• F1 mice have very few circlers while 24% of F2 offspring exhibit circling

abnormal maternal nurturing ( J:119812 )

♀ • decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity

embryo

delayed embryo turning ( J:119812 )

• at E10.5

growth/size/body

decreased body weight ( J:119812 )

• despite similar growth velocities mice weigh less than wild-type

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:119812 )

N • at E10.5 Rathke's pouch is normal and the pituitary at E12.5-E16.5 is also normal despite the fact that in the human disease, patients have hypogonadotrophic hypogonadism

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:119812