Pkhd1^tm1Cjwa
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Cjwa
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Christopher J Ward
• MGI ID: MGI:3814174
• Synonyms: Pkhd1^del2
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1Cjwa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140302
• Parent Cell Line: TL1/TL-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neo cassette replaced exon 2 with a floxed neo cassette. The neo cassette was then removed via in vivo Cre mediated recombination. RT-PCR detected a transcript in mutants that skips exon 2 using the splice donor of exon 1 and the splice acceptor of exon 3. (J:140302)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pkhd1 Mutation: 225 strains or lines available

References

• Original: J:140302 Woollard JR, et al., A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007 Aug;72(3):328-36
• All: 4 reference(s)