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Dmdmdx-3Cv
Chemically induced Allele Detail
Nomenclature
Symbol: Dmdmdx-3Cv
Name: dystrophin, muscular dystrophy; X linked muscular dystrophy 3, Verne Chapman
MGI ID: MGI:1856330
Synonyms: mdx3cv, mdx3cv, mdx3cv, mdxcv3
Gene: Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Mutation
origin
Strain of Origin:  C3Ha.Cg-Hprta Pgk1a
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsA 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). However, a second report shows that the transcript generated by skipping exons 65 and 66 (D65/66) generates an in-frame transcript that produces low levels of dystrophin (J:250658). (J:12150, J:250658)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:  151 strains or lines available
References
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
All:  33 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory