Pkd1^tm1Som
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Som
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Stefan Somlo
• MGI ID: MGI:3793793
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Som page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78422
• Parent Cell Line: WW6 (ES Cell)
• Strain of Origin: STOCK 129/Sv and C57BL/6J and SJL

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neo cassette was inserted immediately downstream of the initiation methionine codon. The absence of transcript was confirmed by RT-PCR on E13.5 kidney extracts. (J:78422)

Disease models

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	4 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 Pkd1 Mutation: 154 strains or lines available

References

• Original: J:78422 Wu G, et al., Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum Mol Genet. 2002 Aug 1;11(16):1845-54
• All: 10 reference(s)