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Targeted Allele Detail
Symbol: Pkp2tm1Wbm
Name: plakophilin 2; targeted mutation 1, Walter Birchmeier
MGI ID: MGI:3487374
Gene: Pkp2  Location: Chr16:16213318-16272712 bp, + strand  Genetic Position: Chr16, 10.09 cM, cytoband B1
E10.75 Pkp2tm1Wbm/Pkp2tm1Wbm 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.

Germline Transmission:  Earliest citation of germline transmission: J:93314
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 9 anatomical structures
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:  23 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory