Mouse Genome Informatics
ht
    Chd7Whi/Chd7+
involves: C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• after mating to wild-type mice only 33% of pups at weaning are heterozygous

behavior/neurological
• 1 of 28 of mice was a non-circler but displayed severe headshaking
• seen in 27 of 28 of mice with the 1 non-circler displaying severe headshaking

craniofacial
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open
• at E15.5 most mice with cleft palate had fewer folds in the palate
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists
• at E15.5, the pinna primordium is smaller than in wild-type

hearing/vestibular/ear
• at E15.5, the pinna primordium is smaller than in wild-type

cardiovascular system
• at E15.5, 3 of 5 mice had an interventricular septal defect and these mice also had edema
• at E15.5 and E16.5, a few mice have mild to severe hemorrhage

homeostasis/metabolism
• at E15.5 and E16.5, about 45% of mice display mild or severe edema

growth/size
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open
• at E15.5 most mice with cleft palate had fewer folds in the palate
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists
• at E15.5, the pinna primordium is smaller than in wild-type
• seen after weaning

adipose tissue

limbs/digits/tail
• at E15.5, toes on the hind feet had not fully separated; however, by E16.5 separation is complete

reproductive system
• 94% of females have vulva abnormalities (J:104123)
• most females have clitoral hypoplasia; however, no genital anomalies are seen in males (J:104123)

respiratory system
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists

vision/eye
• about 50% of mice have symptoms of keratoconjunctivitis sicca due to dry eyes with the right eye more commonly affected (13 of 28) compared to the left eye (3 of 28)

digestive/alimentary system
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open
• at E15.5 most mice with cleft palate had fewer folds in the palate

Mouse Models of Human Disease
OMIM IDRef(s)
CHARGE Syndrome 214800 J:104123