Pkhd1^tm1Sswi
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Sswi
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Scott S Williams
• MGI ID: MGI:5430994
• Synonyms: Pkhd1^lacZ
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1Sswi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186064
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 1 through 3 were replaced with a lacZ gene with a nuclear localization and a floxed neo cassette. RT-PCR confirmed the absence of transcript expression with the deleted region in kidneys. (J:186064)

Disease models

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: 225 strains or lines available

References

• Original: J:186064 Williams SS, et al., Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2008 May;23(5):733-41
• All: 3 reference(s)