mortality/aging
|
• the proportion of homozygotes is decreased to 19.1% and data suggest death late in gestation
|
vision/eye
|
• 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
|
growth/size
|
• at weaning homozygotes weigh significantly less than wild-type or heterozygous littermates
|
|
• 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
|
cardiovascular system
|
• diastolic, systolic, and mean blood pressure are increased with mean arterial pressure increased on average by 12 mmHg
|
behavior/neurological
|
• homozygotes are more docile during handling and in 72% and 76% of trials were submissive to wild-type and heterozygous mice, respectively
|
hypoactivity
(
J:99276
)
|
• 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
|
homeostasis/metabolism
limbs/digits/tail
| N |
• no polydactyly or other notable limb malformations are seen
(J:99276)
|
reproductive system
 |
• spermatozoa lack flagella but have normally formed heads and cilia on epithelial cells form normally
(J:99276)
|
|
|
(J:99276)
|
taste/olfaction
|
• decreased olfactory ability suggested by a decreased ability to find hidden food
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Bardet-Biedl Syndrome; BBS | 209900 | J:99276 | |
| Obesity | 601665 | J:99276 | |
| NOT | McKusick-Kaufman Syndrome; MKKS | 236700 | J:99276 |