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| Nomenclature |
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Symbol:
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Ush1gjs
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Name:
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Usher syndrome 1G;
Jackson shaker
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MGI ID: |
MGI:1856575 |
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Synonyms: |
js |
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Gene:
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Ush1g
Location:
Chr11:115315192-115322041 bp, - strand
Genetic Position: Chr11,
80.84 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: The mutation was identified as a single bp insertion of a guanine within a stretch of six guanines at nucleotide position 675-80. The insertion causes a frame shift mutation that results in a truncated protein at amino acid position 245. The resultant protein lacks the C-terminal SAM domain. (J:82022)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:13462
Dickie MM et al.,
"Jackson shaker, js"
Mouse News Lett 1967;36():39
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All: |
9 reference(s)
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Analysis Tools
