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| Nomenclature |
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Symbol:
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Dmdmdx-5Cv
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Name:
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dystrophin, muscular dystrophy;
X linked muscular dystrophy 5, Verne Chapman
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MGI ID: |
MGI:1856332 |
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Synonyms: |
mdx5cv, mdx5cv, mdxCv5 |
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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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Mutation
origin |
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Strain of Origin:
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C3Ha.Cg-Hprta Pgk1a
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: An A to T transversion at position 1324 in exon 10 creates a new splice donor site in the middle of exon 10. Aberrant splicing from the mutant site to exon 11 creates a 53 bp frameshifting deletion in the encoded mRNA. (J:34517)
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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:9638
Chapman VM et al.,
"Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice."
Proc Natl Acad Sci U S A 1989 Feb;86(4):1292-6
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All: |
15 reference(s)
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Analysis Tools
