mortality/aging
• no homozygotes survive beyond 15 days of age
• most homozygotes die at 3 to 4 days after birth
• a few survive beyond 9 days of age, in the absence of skin, bone, or organ abnormalities
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growth/size/body
• homozygotes fail to gain weight after birth
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behavior/neurological
N |
• homozygotes that survive beyond 9 days of age do not exhibit defects in movement, tactile response, or motor control
|
• mutant pups contain very little gastric milk, suggesting a feeding defect that may retard postnatal growth
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nervous system
• at P1, TUNEL-positive cells are observed in the paraventricular nuclei (PVN) and the lateral hypothalamus (LH) of mutant but not wild-type mice; very few or no TUNEL-positive cells are noted in the arcuate nucleus (ARC) of mutant mice
• by P3, TUNEL-labeled cells are more widely spread in various regions of the hypothalamus which control eating, food intake, and energy metabolism, including the ventromedial hypothalamic nucleus (VMN)
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• as early as P1, homozygotes display degeneration in specific regions of the hypothalamus that control feeding behavior, as determined by TUNEL staining
• in contrast, other brain regions (e.g. cortex, striatum, cerebellum, and hippocampus) display significantly fewer TUNEL-positive cells or show no difference relative to wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
NOT | Huntington's disease | DOID:12858 |
OMIM:143100 |
J:84682 |