nervous system
• somewhat shortened and disorganized at 12 months of age
|
mortality/aging
• breeding heterozygotes with homozygotes yields only 41% mutant offspring rather than the predicted 50%
|
growth/size/body
• although normal size at birth, homozygotes are smaller than littermates shortly thereafter then begin to catch up in size at 4 weeks of age
|
pigmentation
• at one week of age homozygotes have no pigment, and older homozygotes have white at the tips of the hair
|
• at 12 months of age the retinal pigment epithelium shows degeneration with irregular swelling and frequent doming, with occassional migration of retinal pigment epithelial cells into the outer segment layer
|
homeostasis/metabolism
• plasma ornithine is increased to approximately 1000 uM
|
vision/eye
• somewhat shortened and disorganized at 12 months of age
|
• at 12 months of age the retinal pigment epithelium shows degeneration with irregular swelling and frequent doming, with occassional migration of retinal pigment epithelial cells into the outer segment layer
|
hearing/vestibular/ear
N |
• two of two homozygotes assessed show normal auditory brain stem response
|
integument
• at one week of age homozygotes have no pigment, and older homozygotes have white at the tips of the hair
|
• at two weeks of age homozygotes still have no hair and hair begins to grow in at 3 weeks of age
|
ruffled hair
(
J:147337
)
• after 1 month of age the fur has a ruffled appearance due to growing in different directions
|
• follicular dysplasia
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
gyrate atrophy | DOID:1415 |
OMIM:258870 |
J:213842 |