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| Nomenclature |
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Symbol:
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Dmdmdx-3Cv
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Name:
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dystrophin, muscular dystrophy;
X linked muscular dystrophy 3, Verne Chapman
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MGI ID: |
MGI:1856330 |
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Synonyms: |
mdx3cv, mdx3cv, mdx3cv, mdxcv3 |
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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: A T to A transversion creates a novel splice acceptor site 14 bp upstream of the natural site in exon 66. Splicing at this mutant site results in the inclusion of 14 bp of intronic sequence and shifts the reading frame of the encoded mRNA. While a low level of a smaller transcript is expressed from this allele, western blot analysis failed to detect any isoform of protein in various tissues from homozygous mutant mice. (J:12150)
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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: |
28 reference(s)
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Analysis Tools
