Analysis Tools
mortality/aging
|
• mice die after weaning
• however, mice fed powdered food survive
|
reproductive system
skeleton
|
• incisors are poorly formed if they erupt
|
|
• often
(J:13426)
• incisors fail to erupt
(J:89821)
|
|
• increased size at P1 but not at P37 and 3 to 8 months
|
|
• at P37
|
|
• at P1
|
|
• TRAP activity is decreased at P37 but not at 3 to 8 months
|
|
• mice exhibit a slight widening of lateral length at the metaphyses of distal femurs and proximal tibiae unlike in wild-type mice
• at 10, 18, and 37 days, mice exhibit an accumulation of unresorbed endochondral trabeculae unlike in wild-type mice
• however, no accumulation occurs at the of primary spongiosa at the mid-diaphyses
• metaphyseal borders are irregular
|
|
• mice exhibit increased density of the cancellous bone, with some cartilagenous matricies remaining inside the trabeculae at 3-4 months of age
• at 8 months, one mouse still had densely accumulated trabeculae in the caudal vertebrae
|
|
• mice exhibit osteopetrotic lesions during the first 5 weeks that improves after 3 months
(J:30149)
• osteopetrosis is more severe than that seen in Mitfmi-ew homozygotes but less severe than in Mitfmi homozygotes
(J:89821)
|
|
• at P37, sclerotic lesions are observed at the proximal end of the humerus and tibias unlike in wild-type mice
• mice exhibit sclerotic lesions at the costochondral junction and at the metaphysis of the vertebrae unlike in wild-type mice
• at 3 to 4 months, mice exhibit sclerotic lesions in the metaphyseal areas that are less obvious than at P37
• mice develop osteopetrotic lesions that improve with age
|
|
• mice exhibit degeneration in the growth plate
|
|
• at P37, slight lesions are found in the long bone epiphyseal plate
• mice exhibit an increase in the length of growth plate length at the costochondral junction at P1 that decreases with age
|
vision/eye
|
• in some mice
(J:13426)
|
anophthalmia
(
J:13426
)
|
• in some mice
|
pigmentation
|
• fur is white
(J:13426)
|
craniofacial
|
• incisors are poorly formed if they erupt
|
|
• often
(J:13426)
• incisors fail to erupt
(J:89821)
|
hematopoietic system
|
• increased size at P1 but not at P37 and 3 to 8 months
|
|
• at P37
|
|
• at P1
|
|
• TRAP activity is decreased at P37 but not at 3 to 8 months
|
immune system
|
• increased size at P1 but not at P37 and 3 to 8 months
|
|
• at P37
|
|
• at P1
|
|
• TRAP activity is decreased at P37 but not at 3 to 8 months
|
integument
|
• fur is white
(J:13426)
|
growth/size/body
|
• incisors are poorly formed if they erupt
|
|
• often
(J:13426)
• incisors fail to erupt
(J:89821)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteopetrosis | DOID:13533 |
OMIM:PS259700 OMIM:PS607634 |
J:30149 | |
