Analysis Tools
pigmentation
|
• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age
|
cellular
azoospermia
(
J:243745
)
 |
• homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile
|
reproductive system
azoospermia
(
J:243745
)
|
|
• homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile
|
vision/eye
|
• vascular thinning and clearer definition of choroidal vessels
|
|
• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age
|
|
• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age
|
|
• dark-adapted ERG responses are substantially reduced by 1 month of age
|
nervous system
|
• homozygotes assesssed between 3 and 6 months of age have prominant vacuolization in the white matter of the corpus callosum, brain stem, and cerebellum, consistent with human subclinical leukodystrophy
|
|
• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| leukodystrophy | DOID:10579 | J:243745 | ||
