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| Nomenclature |
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Symbol:
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Plectm7.1Gwi
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Name:
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plectin;
targeted mutation 7.1, Gerhard Wiche
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MGI ID: |
MGI:5311563 |
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Synonyms: |
PlecOgna |
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Gene:
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Plec
Location:
Chr15:76170975-76232574 bp, - strand
Genetic Position: Chr15,
35.48 cM
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Skin abnormalities in heterozygous and homozygous Plectm7.1Gwi mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:179812
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A C to T mutation at postion 5995 resulting in a Arg2110Trp substitution was introduced in exon 31 and a floxed neo cassette was inserted in the intron between exons 31 and 32 via homologous recombination. Cre mediated recombination removed the neo cassette. Protein expression of P1a, but not P1c, is reduced in primary keratinocyte lysates from heterozygous and homozygous mice. (J:179812)
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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 Plec Mutation:
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14 strains or lines available |
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| References |
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Original: |
J:179812
Walko G et al.,
"Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna."
PLoS Genet 2011 Dec;7(12):e1002396
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All: |
1 reference(s)
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Analysis Tools
