Plec^tm7.1Gwi
Targeted Allele Detail

Summary

• Symbol: Plec^tm7.1Gwi
• Name: plectin; targeted mutation 7.1, Gerhard Wiche
• MGI ID: MGI:5311563
• Synonyms: Plec^Ogna
• Gene: Plec Location: Chr15:76055174-76115578 bp, - strand Genetic Position: Chr15, 35.48 cM
• Alliance: Plec^tm7.1Gwi page

Skin abnormalities in heterozygous and homozygous Plec^tm7.1Gwi mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:179812
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

Allele Type: Targeted (Hypomorph) Mutations: Insertion, Single point mutation 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)

Generation of the knock-in Plec^tm7.1Gwi allele

Disease models

Find Mice (IMSR)

• 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: 174 strains or lines available

References

• 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)