Pkd1^tm1Jcal
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Jcal
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, James Calvet
• MGI ID: MGI:6258383
• Synonyms: Pkd1^{NEO DeltaL}
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Jcal 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 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)