Pkd1^tm1.1Jcal
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1.1Jcal
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, James P Calvet
• MGI ID: MGI:6258385
• Synonyms: Pkd1^DeltaL
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1.1Jcal page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:266901
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The codon for leucine 4122 in exon 45 was deleted and a loxP site flanked neomycin resistance gene cassette was inserted into intron 45. The neo cassette was removed through subsequent cre-mediated recombination. The deletion mimics the p.Leu4132Del mutation in some human autosomal dominant polycystic kidney disease (ADPKD) patients. The mutation is in the crucial G protein binding domain and creates a functional knock-out. (J:266901)

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: 153 strains or lines available

References

• Original: J:266901 Parnell SC, et al., A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD. Hum Mol Genet. 2018 Oct 1;27(19):3313-3324
• All: 1 reference(s)