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Pkd2m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Pkd2m1Btlr
Name: polycystin 2, transient receptor potential cation channel; mutation 1, Bruce Beutler
MGI ID: MGI:5690203
Synonyms: nephro
Gene: Pkd2  Location: Chr5:104607316-104653685 bp, + strand  Genetic Position: Chr5, 50.68 cM
Alliance: Pkd2m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to A transversion at base pair 56,423,352 (v38) on chromosome 5, or base pair 29,583 in the GenBank genomic region NC_000071. The mutation corresponds to residue 1,882 in the NM_008861 mRNA sequence in exon 7 of 15 total exons. The mutation results in a tryptophan (W) to arginine (G) substitution at position 568 (W568R). (J:225044)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Pkd2 Mutation:  85 strains or lines available
References
Original:  J:225044 Prince L, et al., Mutagenetix entry for nephro. MGI Direct Data Submission. 2015;
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory