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| Nomenclature |
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Symbol:
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Itga7tm1Umr
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Name:
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integrin alpha 7;
targeted mutation 1, Ulrike Mayer
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MGI ID: |
MGI:2153005 |
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Synonyms: |
alpha7- |
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Gene:
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Itga7
Location:
Chr10:128933813-128958277 bp, + strand
Genetic Position: Chr10,
77.2 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:43840
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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 neomycin resistance cassette replaced a 1kb genomic fragment containing exon 1 sequences encoding the signal sequence and first 107bp of the mature protein. Mutant transcripts were detected by Northern blot and RT-PCR analysis in muscle derived from homozygous mice, but these transcripts do not contain sequences associated with exon 1. FACS analysis on myoblasts isolated from homozygous mice demonstrated an absence of the protein and immunohistochemistry on frozen muscle sections demonstrated that no protein was detectable. (J:43840)
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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 Itga7 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:43840
Mayer U et al.,
"Absence of integrin alpha 7 causes a novel form of muscular dystrophy."
Nat Genet 1997 Nov;17(3):318-23
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All: |
13 reference(s)
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Analysis Tools
