Pkhd1^tm1Tjwt
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Tjwt
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Terry J Watnick
• MGI ID: MGI:7546926
• Synonyms: Pkhd1^Flox67HA
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1Tjwt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:296109
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready, Epitope tag, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of exon 67 and an FRT-flanked PGK-neomycin cassette and second loxP site were inserted downstream of the 3 UTR. In addition, a triple HA epitope-tag was inserted in frame at the C-terminus. The floxed region harbors the nuclear localization signal and the PC2-binding site and is a site for pathogenic mutations in humans. (J:296109)

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: 227 strains or lines available

References

• Original: J:296109 Outeda P, et al., A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism. Kidney Int. 2017 Nov;92(5):1130-1144
• All: 3 reference(s)