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Pkd1m1Bei
Chemically induced Allele Detail
Nomenclature
Symbol: Pkd1m1Bei
Name: polycystin 1, transient receptor poteintial channel interacting; mutation 1, David R Beier
MGI ID: MGI:2152894
Synonyms: line 172, Pkd1-
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Mutation
origin
Strain of Origin:  A/J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was shown by complementation testing to be an allele of Pkd1. Molecular analysis determined that a T to G transversion mutation at position 9248 results in a methionine to arginine substitution in the first transmemebrane domain of the encoded protein. A similar mutation is found in humans. (J:75360)
Inheritance:    Recessive
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: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pkd1 Mutation:  99 strains or lines available
References
Original:  J:75360 Herron BJ, et al., Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet. 2002 Feb;30(2):185-9
All:  12 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