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| Nomenclature |
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Symbol:
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Itga6tm1Egl
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Name:
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integrin alpha 6;
targeted mutation 1, Elisabeth Georges Labouesse
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MGI ID: |
MGI:1857793 |
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Synonyms: |
alpha6- |
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Gene:
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Itga6
Location:
Chr2:71745616-71858416 bp, + strand
Genetic Position: Chr2,
42.79 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:33712
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Parent Cell Line:
| H1 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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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 cassette replaced a genomic fragment that contains three coding exons of the gene corresponding to amino acids 62-194. Northern analysis of total RNA extracted from homozygous tissue showed the absence of full length message, and a presence of a truncated mRNA that should not yield a functional protein. Immunohistochemical analysis did not detect any protein produced from this allele in tissue sections derived from from homozygous embryos. (J:33712)
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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:33712
Georges-Labouesse E et al.,
"Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice."
Nat Genet 1996 Jul;13(3):370-3
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All: |
10 reference(s)
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