Mouse Genome Informatics
ht
    Chd7Gt(S20-7E1)Sor/Chd7+
involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Chd7Gt(S20-7E1)Sor/Chd7+ mice exhibit defects of the semicircular canals

mortality/aging
• reduction in survival at weaning

reproductive system
• decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity (J:119812)

hearing/vestibular/ear
• 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
• in 5 of 8 mice at E16.5
• severely truncated in 3 of 8 mice at E16.5 with outpouching at the ampulla present and truncation most notably at the nonampullated end
• in 4 of 8 mice at E16.5
• variable severity of truncations of the canal and reduction in size of the ampulla in 4 of 8 mice

behavior/neurological
• 24% of F2 offspring exhibit head-bobbing
• F1 mice have very few circlers while 24% of F2 offspring exhibit circling
• decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity (J:119812)

embryogenesis

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

endocrine/exocrine glands
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 (J:119812)

Mouse Models of Human Disease
OMIM IDRef(s)
CHARGE Syndrome 214800 J:119812