Analysis Tools
mortality/aging
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• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age
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behavior/neurological
limb grasping
(
J:67910
)
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• most mutants develop hindlimb clasping after 7 weeks of age
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• at 8 weeks of age, males show increased latency to start moving and to reach the wall of the open field apparatus
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• in the gait onset test, males take longer to exit a circle at 3 and 8 weeks of age
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• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age, a sign of ataxia
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• develop a stiff, uncoordinated gait between 3 and 8 weeks of age
(J:67910)
• males exhibit a greater front-base width overall and a larger hind-base width than wild-type mice by 3 weeks of age
(J:165306)
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• stride length is shorter than in wild-type mice at 8 weeks of age but not at 3 weeks of age
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• exhibit reduced spontaneous movement between 3 and 8 weeks of age
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growth/size/body
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• frequently exhibit uneven wearing of the teeth
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• Background Sensitivity: mutants mated to C57BL/6 (mixed 129P2/OlaHsd and C57BL/6 background) mice are substantially underweight from 4 weeks with full penatrance
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weight loss
(
J:67910
)
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• variable progression of symptoms leads to rapid weight loss and death at about 54 days of age
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• Background Sensitivity: mutants on the mixed 129P2/OlaHsd and C57BL/6 background mated to 129 mice are the same weight as controls until 8 weeks of age, when they gain weight and become heavier than controls with an increase in deposited fat
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respiratory system
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• most mutants exhibit irregular breathing after 3-8 weeks of age
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reproductive system
cryptorchism
(
J:67910
)
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• testes of mutant males are always internal
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craniofacial
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• frequently exhibit misalignment of the jaws
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• frequently exhibit uneven wearing of the teeth
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endocrine/exocrine glands
cryptorchism
(
J:67910
)
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• testes of mutant males are always internal
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skeleton
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• frequently exhibit misalignment of the jaws
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• frequently exhibit uneven wearing of the teeth
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hearing/vestibular/ear
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• some mutants fail to respond to sound, although neither motor defects nor sensory defects are detected
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homeostasis/metabolism
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• 36% reduction in levels of norepinephrine within the vestibular nuclei
• males exhibit a 31%, 30%, and 61% decrease in norepinephrine in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age
• mutants do not exhibit an increase in norepinephrine in the hippocampus from 3 to 8 weeks of age as seen in wild-type mice
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• males exhibit a 36%, 30%, and 55% decrease in 5-HT in the prefrontal cortex at 3 weeks, the motor cortex at 3 weeks, and the cerebellum at 8 weeks of age, respectively
• males exhibit a 34% and 55% decrease in the 5-HT precursor, 5-HIAA in the prefrontal cortex at 3 weeks and the cerebellum at 8 weeks of age, respectively
• 5-HT turnover is increased in the prefrontal cortex and motor cortex
• 5-HT levels are decreased in the hippocampus at 8 weeks of age but not at 3 weeks
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nervous system
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• at 3 weeks of age, noradrenergic and serotonergic transmission is altered in the prefrontal and motor cortices
• during progression of disease, noradrenergic and serotonergic transmission is also altered in the hippocampus and cerebellum
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Rett syndrome | DOID:1206 |
OMIM:312750 OMIM:613454 |
J:67910 , J:165306 | |
