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| Nomenclature |
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Symbol:
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Sgcbtm1Kcam
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Name:
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sarcoglycan, beta (dystrophin-associated glycoprotein);
targeted mutation 1, Kevin P Campbell
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MGI ID: |
MGI:2153048 |
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Gene:
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Sgcb
Location:
Chr5:73632749-73647713 bp, - strand
Genetic Position: Chr5,
38.89 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:60154
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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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A loxP flanked neomycin cassette replaced a genomic fragment that contained exons 3-6. These exons encode part of the transmembrane domain and the extracellular portion of the protein. Northern blot analysis revealed that no transcript was detectable in skeletal muscle of homozygous mice and Western blot and immunohistochemical analysis demonstrated that the protein was absent in the sarcolemma of skeletal muscle derived from homozygous mice. (J:60154)
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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:60154
Durbeej M et al.,
"Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E."
Mol Cell 2000 Jan;5(1):141-51
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All: |
6 reference(s)
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Analysis Tools
