Pkhd1<tm1Gwu> Targeted Allele Detail MGI Mouse (MGI:3826780)

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)

Phenotypes

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

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)

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