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| Nomenclature |
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Symbol:
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Dysfprmd
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Name:
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dysferlin;
progressive muscular dystrophy
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MGI ID: |
MGI:3055150 |
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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: | |
Transposon insertion |
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Mutation details: A retrotransposon insertion occurred within intron 4, causing aberrant splicing of the gene. Protein was abolished as shown by Northern blot and immunoblot analysis. The insertion was 6000bp in size. This allele was found only in A/J mice, not in A/WySnJ, A/HeJ, C57BL/6J, SJL/J, SWR/J or 129/SvJ mice. (J:92838, J:149430, J:149432)
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Inheritance: | |
Not Specified |
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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:92838
Ho M et al.,
"Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency."
Hum Mol Genet 2004 Sep 15;13(18):1999-2010
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All: |
14 reference(s)
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Analysis Tools
