Pkhd1^tm1Gwu
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Gwu
• 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: Pkhd1^tm1Gwu page

Cystic kidneys and other phenotypes in Pkd2^tm1Gwu/Pkd2^tm1Gwu and Pkhd1^tm1Gwu/Pkhd1^tm1Gwu mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	10 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 Pkhd1 Mutation: 225 strains or lines available

References

• 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)