Analysis Tools
mortality/aging
|
• after mating to wild-type mice only 33% of pups at weaning are heterozygous
|
behavior/neurological
head shaking
(
J:104123
)
|
• 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
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• 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
|
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• at E15.5, the pinna primordium is smaller than in wild-type
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hearing/vestibular/ear
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• 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
|
hemorrhage
(
J:104123
)
|
• at E15.5 and E16.5, a few mice have mild to severe hemorrhage
|
homeostasis/metabolism
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 |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:104123 | |
