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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 (42 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 (J:104123)
• after mating to wild-type mice only 33% of pups at weaning are heterozygous (J:104123)

behavior/neurological
• 1 of 28 of mice was a non-circler but displayed severe headshaking (J:104123)
• 1 of 28 of mice was a non-circler but displayed severe headshaking (J:104123)
• seen in 27 of 28 of mice with the 1 non-circler displaying severe headshaking (J:104123)
• seen in 27 of 28 of mice with the 1 non-circler displaying severe headshaking (J:104123)

craniofacial
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists (J:104123)
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists (J:104123)
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)

hearing/vestibular/ear
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)

cardiovascular system
• at E15.5, 3 of 5 mice had an interventricular septal defect and these mice also had edema (J:104123)
• at E15.5, 3 of 5 mice had an interventricular septal defect and these mice also had edema (J:104123)
• at E15.5 and E16.5, a few mice have mild to severe hemorrhage (J:104123)
• at E15.5 and E16.5, a few mice have mild to severe hemorrhage (J:104123)

homeostasis/metabolism
• at E15.5 and E16.5, about 45% of mice display mild or severe edema (J:104123)
• at E15.5 and E16.5, about 45% of mice display mild or severe edema (J:104123)

growth/size/body
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists (J:104123)
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists (J:104123)
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)
• at E15.5, the pinna primordium is smaller than in wild-type (J:104123)
• seen after weaning (J:104123)
• seen after weaning (J:104123)

adipose tissue

limbs/digits/tail
• at E15.5, toes on the hind feet had not fully separated; however, by E16.5 separation is complete (J:104123)
• at E15.5, toes on the hind feet had not fully separated; however, by E16.5 separation is complete (J:104123)

reproductive system
• 94% of females have vulva abnormalities (J:104123)
• 94% of females have vulva abnormalities (J:104123)
• most females have clitoral hypoplasia; however, no genital anomalies are seen in males (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 (J:104123)
• at E16.5 in 2 of 3 mice with cleft palate the choanae are less well developed and the nasal bucal membrane persists (J:104123)

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) (J:104123)
• 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) (J:104123)

digestive/alimentary system
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5, 35% of mice have palate defects ranging from partial closure to complete cleft (J:104123)
• at E16.5, in some mice the palate shelves touch but have not fused while in others the palate remains open (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)
• at E15.5 most mice with cleft palate had fewer folds in the palate (J:104123)

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) (J:104123)
• 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) (J:104123)

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
02/02/2016
MGI 6.02
The Jackson Laboratory