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Pkd1l1rks
Chemically induced Allele Detail
Summary
Symbol: Pkd1l1rks
Name: polycystic kidney disease 1 like 1; rikishi
MGI ID: MGI:4948351
Gene: Pkd1l1  Location: Chr11:8782025-8924365 bp, - strand  Genetic Position: Chr11, 5.57 cM, cytoband A2
Alliance: Pkd1l1rks page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn A to T transition mutation at nucleotide 1232 in exon 8 results in a non-conservative substitution of glycine for aspartic acid at position 411. This mutation occurs in a highly conserved residue in the second PKD domain. In silico modeling predicts this mutation will disrupt the structure of the second PKD domain. (J:170490)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
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 Pkd1l1 Mutation:  156 strains or lines available
References
Original:  J:170490 Field S, et al., Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. Development. 2011 Mar;138(6):1131-42
All:  2 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
12/10/2024
MGI 6.24
The Jackson Laboratory