About   Help   FAQ
Pkd1tm1.1Pcha
Targeted Allele Detail
Summary
Symbol: Pkd1tm1.1Pcha
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Peter Harris
MGI ID: MGI:5476822
Synonyms: Pkd1RC
Gene: Pkd1  Location: Chr17:24768808-24815482 bp, + strand  Genetic Position: Chr17, 12.4 cM
Alliance: Pkd1tm1.1Pcha page
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 arginine codon 3269 (AGA) was changed to cysteine (TGC) (c.9805.9807AGA>TGC, p.R3269C), which corresponds to the human autosomal dominant polycystic kidney disease (ADPKD)-associated p.R3277C mutation. Cre-mediated recombination removed a floxed puromycin cassette inserted downstream of exon 30. (J:193544)
Generation of the Pkd1tm1.1Pcha allele
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Mice Carrying this Mutation: 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 12 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:  153 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:  21 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory