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

Symbol: Pkhd1tm1Gwu Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Guanqing Wu MGI ID: MGI:3826780 Gene: Pkhd1  Location: Chr1:20128003-20688288 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5 Alliance: Pkhd1tm1Gwu page

Cystic kidneys and other phenotypes in Pkd2tm1Gwu/Pkd2tm1Gwu and Pkhd1tm1Gwu/Pkhd1tm1Gwu mice Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:143394
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout, Reporter) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 15 and 16 was replaced with a GFP/neo cassette inserted into exon 15. The absence of protein expression was confirmed by western blot analysis on adult kidney extracts. (J:143394)

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

In Structures Affected by this Mutation:

10 anatomical structure(s)

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 Pkhd1 Mutation:	222 strains or lines available

Original:	J:143394 Kim I, et al., Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol. 2008 Mar;19(3):455-68
All:	4 reference(s)