Pkd1^tm1.1Fqi
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1.1Fqi
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Feng Qian
• MGI ID: MGI:5470234
• Synonyms: Pkd1^V
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1.1Fqi page

Small size and postnatal development of cystic kidney in Pkd1^tm1.1Fqi/Pkd1^tm1.1Fqi mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:127628
• Parent Cell Line: CMTI-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

Allele Type: Targeted Mutation: Nucleotide substitutions Mutation details: The codon ACT (Thr) was mutated to GTT (Val) at amino acid position 3041 of the cleavage site HL^T^3041. The Neo was removed by crossing mice with FLP transgenic mice. The T3041V mutation is expected to disrupt cleavage of PKD1 and Western blots confirmed that the mutant protein is not cleaved and is expressed at 2-3 times the levels of uncleaved full-length PKD1 seen in wild-type mice. (J:127628)

Generation of the Pkd1^tm1Fqi and Pkd1^tm1.1Fqi alleles

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	5 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 Pkd1 Mutation: 154 strains or lines available

References

• Original: J:127628 Yu S, et al., Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18688-93
• All: 10 reference(s)