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Targeted Allele Detail
Symbol: Pkd1tm1.1Fqi
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 1.1, Feng Qian
MGI ID: MGI:5470234
Synonyms: Pkd1V
Gene: Pkd1  Location: Chr17:24549834-24596508 bp, + strand  Genetic Position: Chr17, 12.4 cM
Small size and postnatal development of cystic kidney in Pkd1tm1.1Fqi/Pkd1tm1.1Fqi mice

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

Germline Transmission:  Earliest citation of germline transmission: J:127628
Parent Cell Line:  CMTI-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
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 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 Pkd1tm1Fqi and Pkd1tm1.1Fqi alleles
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 anatomical structures
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:  100 strains or lines available
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:  7 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
MGI 6.16
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