Phenotypes associated with this allele
hearing/vestibular/ear
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• hair cells lack stereocilia at 5 days of age
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nervous system
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• hair cells lack stereocilia at 5 days of age
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1tm1.2Erv mutation
(1 available);
any
Actg1 mutation
(23 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length
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• indistinguishable from controls between 4 and 20 kHz at 6 weeks of age
• threshold elevated relative to controls at 32 kHz in 6 week old mice
• significantly eleveated thresholds at all frequencies tested by 18 weeks of age
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• progressive hearing loss with age
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nervous system
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• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length
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|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1tm1.2Erv mutation
(1 available);
any
Actg1 mutation
(23 available)
Tg(ACTA1-cre)79Jme mutation
(2 available)
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behavior/neurological
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• about 2/3 of mice show classical hind limb contractures when suspended by the tail
• persists throughout life without getting any worse
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• reduced mobility
• persists throughout life without getting any worse
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muscle
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• dystrophin is less organized at the z-line in some muscles
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• muscles primarily made up of type II fibers are most affected
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• more variability in muscle fiber size
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• centrally nucleated fibers start appearing in muscle at about 3 months of age and progress to widespread incidence by 12 to 18 months
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• maximal force production by extensor digitorum longus muscle is less than in controls
• maximal titanic force is similar to controls
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