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Phenotypes Associated with This Genotype
Genotype
MGI:3616771
Allelic
Composition
Chd7Whi/Chd7+
Genetic
Background
involves: C3HeB/FeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7Whi mutation (1 available); any Chd7 mutation (68 available)
phenotype observed in females
phenotype observed in males
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/body
• 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
• most females have clitoral hypoplasia; however, no genital anomalies are seen in males

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

immune system
• 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)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory