Pkd1^tm1.1Pcha
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1.1Pcha
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Peter Harris
• MGI ID: MGI:5476822
• Synonyms: Pkd1^RC
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1.1Pcha page

Illustration of polycystic kidney disease progression and variation in Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha 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 details: Exon 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 Pkd1^tm1.1Pcha allele

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	10 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: 154 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: 23 reference(s)