Pkp1^{tm2d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Pkp1^{tm2d(KOMP)Wtsi}
• Name: plakophilin 1; targeted mutation 2d, Wellcome Trust Sanger Institute
• MGI ID: MGI:5823266
• Synonyms: PKP1^-
• Gene: Pkp1 Location: Chr1:135799133-135846945 bp, - strand Genetic Position: Chr1, 59.35 cM
• Alliance: Pkp1^{tm2d(KOMP)Wtsi} page
• IMPC: Pkp1 gene page

Mutation origin

• Mutant Cell Line: EPD0569_3_C03
• Germline Transmission: Earliest citation of germline transmission: J:233599
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 135836346 of Chromosome 1 upstream of the critical exon (exon 2) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 2 at position 135837201. Exon 2 is thus flanked by loxP sites. A null/knockout allele was created by flp and cre recombinase expression in mice carrying this allele to remove the lacZ sequence, neo selection cassette and exon 2. Western blot analysis confirmed the complete absence of protein expression in dorsal skin from newborn homozygous mutant mice. (J:233599)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Pkp1 Mutation: 36 strains or lines available

References

• Original: J:233599 Rietscher K, et al., Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo. J Invest Dermatol. 2016 Jul;136(7):1471-8
• All: 2 reference(s)