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

Symbol:	Pkd2tm1Som
Name:	polycystin 2, transient receptor potential cation channel; targeted mutation 1, Stefan Somlo
MGI ID:	MGI:1860840
Synonyms:	hypomorphic allele, Pkd2TgHWS25Som, Pkd2WS25, PkdWS25
Gene:	Pkd2  Location: Chr5:104607316-104653685 bp, + strand  Genetic Position: Chr5, 50.68 cM
Alliance:	Pkd2tm1Som page

Germline Transmission:	Earliest citation of germline transmission: J:47035
Parent Cell Line:	WW6 (ES Cell)
Strain of Origin:	STOCK 129/Sv and C57BL/6J and SJL

Allele Type:    Targeted (Hypomorph) Mutation:    Insertion   Mutation details: Exon 1 was disrupted by the integration of the targeting vector into the first intron of the gene without replacing the first exon. This allele is described as a hypomorphic allele. (J:47035) Inheritance:    Semidominant

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

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	6 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 Pkd2 Mutation:	84 strains or lines available

Original:	J:47035 Wu G, et al., Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 1998 Apr 17;93(2):177-88
All:	30 reference(s)