Analysis Tools
mortality/aging
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• the proportion of homozygotes is decreased to 19.1% and data suggest death late in gestation
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vision/eye
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• at 2-3 months of age a slight reduction in the outer nuclear layer and some cell nuclei in the subretinal space were seen
• at 8 months of age the outer nuclear layer is completely degenerated and no remnants of the inner or outer segments are seen
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growth/size/body
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• at weaning homozygotes weigh significantly less than wild-type or heterozygous littermates
|
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• by 28 weeks of age homozygotes weigh significantly more than wild-type or heterozygous littermates and the weight difference is greater in females than in males
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cardiovascular system
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• diastolic, systolic, and mean blood pressure are increased with mean arterial pressure increased on average by 12 mmHg
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behavior/neurological
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• homozygotes are more docile during handling and in 72% and 76% of trials were submissive to wild-type and heterozygous mice, respectively
|
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• 24 hour telemetry indicates a significant decrease in activity; however, no significant differences in muscle or motor neuron function dependent behaviors are seen
|
 |
• females are less vocal during handling
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homeostasis/metabolism
limbs/digits/tail
| N |
• no polydactyly or other notable limb malformations are seen
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reproductive system
 |
• spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally
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taste/olfaction
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• decreased olfactory ability suggested by a decreased ability to find hidden food
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cellular
|
|
• spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 6 | DOID:0110128 |
OMIM:605231 |
J:99276 | |
| obesity | DOID:9970 |
OMIM:601665 |
J:99276 | |
