Myo7a816SB
Chemically induced Allele Detail
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Symbol: |
Myo7a816SB |
Name: |
myosin VIIA; shaker 816SB |
MGI ID: |
MGI:2155423 |
Synonyms: |
Myo7ash1-2R, sh1816SB, sh1OR-816SB |
Gene: |
Myo7a Location: Chr7:97700267-97768731 bp, - strand Genetic Position: Chr7, 53.57 cM
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Alliance: |
Myo7a816SB page
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Allele Type: |
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Chemically induced (ENU) |
Mutations: |
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Insertion, Inversion
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Mutation details: A 16 nt inversion and substitution of two A nucleotides with a single G resulted in a deletion of ten amino acids in the encoded protein. This mutation is predicted to lie in the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that approximately 63% of the normal level of the protein was expressed.
(J:49926)
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Inheritance: |
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Recessive |
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | involves: BALB/cRl | | | | involves: BALB/cRl * 47BS/Rl | |
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Phenotypes: |
Affected Systems |
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hearing/vestibular/ear
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abnormal hair cell morphology
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abnormal cochlear hair cell stereociliary bundle morphology
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abnormal orientation of cochlear hair cell stereociliary bundles
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abnormal hearing physiology
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absent cochlear microphonics
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abnormal auditory summating potential
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nervous system
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abnormal hair cell morphology
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abnormal cochlear hair cell stereociliary bundle morphology
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√
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abnormal orientation of cochlear hair cell stereociliary bundles
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absent cochlear microphonics
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View phenotypes and curated references for all genotypes (concatenated display).
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Key: |
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disease model |
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![](https://www.informatics.jax.org/webshare/images/notSymbol.gif) |
expected model not found |
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Models:
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Human Diseases |
IDs
Usher syndrome type 1
Close
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Original: |
J:10283 Rinchik EM, et al., A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis. Proc Natl Acad Sci U S A. 1990 Feb;87(3):896-900 |
All: |
7 reference(s) |
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