Pkhd1^tm1Som
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Som
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Stefan Somlo
• MGI ID: MGI:3774015
• Synonyms: Pkhd1^del4
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1Som page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:131370
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 0.8 kb fragment, which contains part of exon 4 that encodes the terminal 46 amino acids and part of intron 4, was replaced with a neo cassette. The presence of two truncated transcripts (one lacking part of exon 4 and exon 5, and the other lacking all of exon 4) was confirmd by RT-PCR analysis on kindey and liver extracts. (J:131370)

Expression

In Structures Affected by this Mutation:

7 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: 222 strains or lines available

References

• Original: J:131370 Gallagher AR, et al., Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol. 2008 Feb;172(2):417-29
• All: 4 reference(s)