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| Nomenclature |
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Symbol:
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Dmdtm1Mok
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Name:
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dystrophin, muscular dystrophy;
targeted mutation 1, Motoya Katsuki
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MGI ID: |
MGI:2429942 |
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Synonyms: |
Xmdx52 |
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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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Germline Transmission:
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Earliest citation of germline transmission:
J:43164
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Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Expression of three isoforms produced by the endogenous locus was disrupted by the replacement of exon 52 with a neomycin selection cassette. Western blot analysis showed that while both the 116 kD peripheral nerve and the 71 kD non-muscle isoforms were present in mutant mice, the 427 kD dystrophin, 260 kD retinal, and 140 kD isoforms were absent. (J:43164)
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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:43164
Araki E et al.,
"Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy."
Biochem Biophys Res Commun 1997 Sep 18;238(2):492-7
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All: |
3 reference(s)
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Analysis Tools
