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| Nomenclature |
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Symbol:
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Dysfim
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Name:
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dysferlin;
inflammatory myopathy
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MGI ID: |
MGI:1857883 |
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Synonyms: |
SJL-Dysf |
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Gene:
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Dysf
Location:
Chr6:84008590-84211060 bp, + strand
Genetic Position: Chr6,
36.14 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: | |
Intragenic deletion |
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Mutation details: A 171 bp in-frame deletion in the encoded mRNA is predicted to remove 57 amino acids from the corresponding protein. This region corresponds to most of the fourth C2 domain of the protein, and the deletion likely results in instability of the protein. The molecular basis for the mutation is due to a splicing mutation in the gene, resulting from a deletion of a small tandem repeat. (J:67994)
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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:57764
Bittner RE et al.,
"Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [letter]"
Nat Genet 1999 Oct;23(2):141-2
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All: |
9 reference(s)
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Analysis Tools
