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| Nomenclature |
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Symbol:
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Dag1tm4.1Kcam
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Name:
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dystroglycan 1;
targeted mutation 4.1, Kevin P Campbell
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MGI ID: |
MGI:4940531 |
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Synonyms: |
Dag1T190M |
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Gene:
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Dag1
Location:
Chr9:108205958-108263736 bp, - strand
Genetic Position: Chr9,
59.08 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:169291
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A nucleotide substitutions in exon 3 resulted in the amino acid substitution of methionine for tyrosine at position 190 (T190M). This mutation corresponds to the T192M mutation identified in humans with Limb-Girdle Muscular Dystrophy. A floxed neo cassette was inserted upstream of exon 3 and was removed by cre mediated recombination. (J:169291)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dag1 Mutation:
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77 strains or lines available |
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| References |
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Original: |
J:169291
Hara Y et al.,
"A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy."
N Engl J Med 2011 Mar 10;364(10):939-946
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All: |
1 reference(s)
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Analysis Tools
