Analysis Tools
behavior/neurological
| N |
• unlike in the human syndrome, no evidence of neurological impairment is seen in mutants up to 16 months old
|
|
• constriction of the pupil in response to light is slower and incomplete compared to wild-type littermates
|
endocrine/exocrine glands
small testis
(
J:94753
)
 |
• mature (6 weeks) but not immature (3 weeks) mutants have smaller testes compared to wild-type mice of the same age
|
growth/size/body
|
• decreased body weight to about 80% of wild-type is seen from 3 to 56 weeks of age, however no difference in food intake is seen
|
reproductive system
azoospermia
(
J:94753
)
|
|
|
small testis
(
J:94753
)
|
|
• mature (6 weeks) but not immature (3 weeks) mutants have smaller testes compared to wild-type mice of the same age
|
|
|
• spermatogenesis arrests at the round spermatid stage and round spermatids accumulate vacuoles
|
 |
• homozygous females mated to wild-type males produce smaller litters
|
|
• homozygous females mated to wild-type males produce smaller litters
|
vision/eye
|
• constriction of the pupil in response to light is slower and incomplete compared to wild-type littermates
|
|
• the rod inner segment is thinner
|
|
• the rod outer segment is thinner and vacuoles are seen in the outer segment
|
|
• fewer cells are seen in the outer nuclear layer which contains the cell bodies of both the rods and cones
|
|
• progressive retinal impairment is seen in electrorectinography and as gross abnormalities in the retinal layers at P411
|
nervous system
| N |
• unlike in the human syndrome, no evidence of iron accumulation is seen by MRI or Perls-DAB staining is seen in mutants up to 16 months old
|
|
• the rod inner segment is thinner
|
|
• the rod outer segment is thinner and vacuoles are seen in the outer segment
|
cellular
azoospermia
(
J:94753
)
|
|
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | pantothenate kinase-associated neurodegeneration | DOID:3981 |
OMIM:234200 |
J:94753 |
