Pkp2^tm1Wbm
Targeted Allele Detail

Summary

• Symbol: Pkp2^tm1Wbm
• Name: plakophilin 2; targeted mutation 1, Walter Birchmeier
• MGI ID: MGI:3487374
• Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Pkp2^tm1Wbm page

E10.75 Pkp2^tm1Wbm/Pkp2^tm1Wbm embryos accumulate blood in pericardial and peritoneal cavities and lack red blood cells in the yolk sac vasculature

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93314
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 7.8 kb genomic fragment within exon 1 and intron 1 was replaced by a neomycin selection cassette in opposite transcriptional orientation to the gene via homologous recombination, creating a stop codon after 43 aa. Western blot with an antibody against the COOH terminus and immunofluorescence analysis confirmed the absence of protein in E10.75 embryos and cardiac tissue, respectively. (J:93314)

Expression

In Structures Affected by this Mutation:

7 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 Pkp2 Mutation: 41 strains or lines available

References

• Original: J:93314 Grossmann KS, et al., Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol. 2004 Nov 11;167(1):149-60
• All: 7 reference(s)