Pkd1tm1.1Fqi
Targeted Allele Detail
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Symbol: |
Pkd1tm1.1Fqi |
Name: |
polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Feng Qian |
MGI ID: |
MGI:5470234 |
Synonyms: |
Pkd1V |
Gene: |
Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
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Alliance: |
Pkd1tm1.1Fqi page
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Small size and postnatal development of cystic kidney in Pkd1tm1.1Fqi/Pkd1tm1.1Fqi mice
Show the 2 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:127628
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Parent Cell Line: |
CMTI-1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted |
Mutation: |
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Nucleotide substitutions
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Mutation details: The 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)
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Generation of the Pkd1tm1Fqi and Pkd1tm1.1Fqi alleles |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Pkd1 Mutation: |
153 strains or lines available
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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: |
9 reference(s) |
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