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| Nomenclature |
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Symbol:
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Dmdmdx
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Name:
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dystrophin, muscular dystrophy;
X linked muscular dystrophy
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MGI ID: |
MGI:1856328 |
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Synonyms: |
mdx, pke, pvruvate kinase expression |
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Gene:
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Dmd
Location:
ChrX:82948870-85206141 bp, + strand
Genetic Position: ChrX,
38.38 cM, cytoband C
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Dmdmdx/? Myod1tm1Jae/Myod1tm1Jae mice develop cardiomyopathy
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/10ScSn
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: This mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T transition occurred at position 3185, resulting in a termination codon in place of a glutamine codon. This mutation is predicted to produce a truncated protein. (J:9866, J:40541, J:102707)
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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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Analysis Tools
