Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Pkhd1tm1Cjwa
Name:	polycystic kidney and hepatic disease 1; targeted mutation 1, Christopher J Ward
MGI ID:	MGI:3814174
Synonyms:	Pkhd1del2
Gene:	Pkhd1  Location: Chr1:20128003-20688288 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Alliance:	Pkhd1tm1Cjwa page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	222 strains or lines available

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)