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Pkd1tm1Fqi
Targeted Allele Detail
Summary
Symbol: Pkd1tm1Fqi
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Feng Qian
MGI ID: MGI:5470240
Synonyms: Pkd1NeoV
Gene: Pkd1  Location: Chr17:24768808-24815482 bp, + strand  Genetic Position: Chr17, 12.4 cM
Alliance: Pkd1tm1Fqi page
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 detailsThe codon ACT (Thr) was mutated to GTT (Val) at amino acid position 3041 of the cleavage site HL^T3041. The T3041V mutation is expected to disrupt cleavage of PKD1. In addition a Neo cassette was introduced to aid with selection. (J:127628)
Generation of the Pkd1tm1Fqi and Pkd1tm1.1Fqi alleles
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory