Pkd2^tm1Som
Targeted Allele Detail

Summary

• Symbol: Pkd2^tm1Som
• Name: polycystin 2, transient receptor potential cation channel; targeted mutation 1, Stefan Somlo
• MGI ID: MGI:1860840
• Synonyms: hypomorphic allele, Pkd2^TgHWS25Som, Pkd2WS25, Pkd^WS25
• Gene: Pkd2 Location: Chr5:104607316-104653685 bp, + strand Genetic Position: Chr5, 50.68 cM
• Alliance: Pkd2^tm1Som page

Mutation origin

• 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

Mutation description

• 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

Disease models

Expression

In Mice Carrying this Mutation:	24 assay results
In Structures Affected by this Mutation:	6 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 Pkd2 Mutation: 85 strains or lines available

References

• 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)