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Targeted Allele Detail
Symbol: Plectm7.1Gwi
Name: plectin; targeted mutation 7.1, Gerhard Wiche
MGI ID: MGI:5311563
Synonyms: PlecOgna
Gene: Plec  Location: Chr15:76170975-76232574 bp, - strand  Genetic Position: Chr15, 35.48 cM
Skin abnormalities in heterozygous and homozygous Plectm7.1Gwi mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:179812
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
Generation of the knock-in Plectm7.1Gwi allele
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Plec Mutation:  14 strains or lines available
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
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory