Analysis Tools
mortality/aging
 |
• incomplete penetrance; significant perinatal losses of heterozygous females
|
|
|
• incomplete penetrance; significant postnatal losses of heterozygous females
|
growth/size/body
limbs/digits/tail
brachypodia
(
J:5403
)
|
|
• feet are sometimes shorter than controls
• other skeletal elements may be affected
|
brachydactyly
(
J:5403
)
|
|
• hind toes are often shortened
|
clinodactyly
(
J:5403
)
|
|
• one or more hind toes are bent
|
short limbs
(
J:7012
)
|
|
|
short tail
(
J:7012
)
|
|
|
kinked tail
(
J:7012
)
|
|
|
skeleton
|
|
• premature calcification of the vertebral bones and epiphysis of the limb bones is seen at 5 days of age
|
vision/eye
behavior/neurological
|
|
• offspring of heterozygous females show reduced viability regardless of genotype, suggesting a maternal nurturing defect
|
pigmentation
|
|
• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs
|
integument
|
|
• appearance of dark stripes on coat adjacent to bare skin due to visibility of the dark base of hairs
|
|
|
• at P5, patches of bare skin are apparent among emerging coat hair
(J:5403)
• large bare patches are apparent in adults
(J:5403)
• bare patches in coat in a linear and blotchy pattern
(J:7012)
|
|
|
• adult animals appear scruffy
(J:5403)
(J:7012)
|
|
|
• shafts are of uneven diameter and appear twisted
|
hyperkeratosis
(
J:7012
)
|
|
• by P8, mice exhibit hyperkeratotic skin eruptions, arranged in a linear and blotchy pattern
• thick hyperkeratosis; reaches into the hair follicles
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| X-linked chondrodysplasia punctata 1 | DOID:0060292 |
OMIM:302950 |
J:7012 | |
