mortality/aging
• reduction in survival at weaning
|
reproductive system
|
• decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity
|
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
head bobbing
(
J:119812
)
• 24% of F2 offspring exhibit head-bobbing
|
|
• decreased fertility or nurturing behaviors in females that exhibit head-bobbing, circling and hyperactivity
|
embryo
• at E10.5
|
growth/size/body
• 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
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:119812 |