mortality/aging
• mutants that are hydrocephalic die by P35
• none survive longer than 13 months
|
growth/size/body
• smaller than controls at weaning and at P60
|
behavior/neurological
limb grasping
(
J:65520
)
• abnormal limb clasping at P21 that becomes progressively more severe such that mice curl their body upon clasping and maintain the posture for several seconds following return to cage
|
• exhibit motor defects in mutants subjected to cage-top rotation test and elevated wire rod hanging test
|
• noticeably hypoactive at 10-12 months of age
|
nervous system
hydrocephaly
(
J:65520
)
• about 8% are hydrocephalic by P10
|
• striatum is disorganized at 8-months of age
|
• cortex is disorganized at 8-months of age
|
astrocytosis
(
J:65520
)
• reactive astocytosis in the entorhinal cortex, striatum, and frontal cortex at 4 and 8 months of age
|
• neurodegeneration in the caudal/lateral region of the cortex at 4-6 months of age and in the rostral and caudal portions of the brain adjacent to the external capsule and in the entorhinal cortex at 8 months of age
• exhibit shrunken eosinophilic neurons, indicative of neuronal damage, in the hippocampus at 8-months of age
• 8 month old mutants exhibit neurodegeneration in the external capsule fibre tracts and in fibre bundles of the internal capsule within the striatum, in the amygdala and in both the frontal and dorsal cortex
• degeneration is essentially complete by 10 months
|
reproductive system
|
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis
|
|
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
|
small testis
(
J:65520
)
|
• testis is about 50% the weight of controls
|
endocrine/exocrine glands
|
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
|
small testis
(
J:65520
)
|
• testis is about 50% the weight of controls
|
cellular
|
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Huntington's disease | DOID:12858 |
OMIM:143100 |
J:65520 |