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Pkd1tm1.1Pcha
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm1.1Pcha
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 1.1, Peter Harris
MGI ID: MGI:5476822
Synonyms: Pkd1RC
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Illustration of polycystic kidney disease progression and variation in Pkd1tm1.1Pcha/Pkd1tm1.1Pcha mice

Show the 11 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:193544
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 29 was replaced with a modified exon in which nucleotide substitutions (AGA to TGC) result in the amino acid substitution of cysteine for arginine at position 3277 (p.R3277C). Cre-mediated recombination removed a floxed puromycin cassette inserted downstream of exon 30. (J:193544)
Generation of the Pkd1tm1.1Pcha allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 13 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:  99 strains or lines available
References
Original:  J:193544 Hopp K, et al., Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest. 2012 Nov 1;122(11):4257-73
All:  4 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
08/13/2019
MGI 6.14
The Jackson Laboratory