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Cys1cpk
Spontaneous Allele Detail
Nomenclature
Symbol: Cys1cpk
Name: cystin 1; congenital polycystic kidneys
MGI ID: MGI:1856831
Synonyms: ck, cpk
Gene: Cys1  Location: Chr12:24665838-24681813 bp, - strand  Genetic Position: Chr12, 8.49 cM
Mutation
origin
Strain of Origin:  B6.Cg-Bloc1s6pa
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe underlying mutation responsible for the phenotype in the cpk mouse consists of a tandem deletion of 12 bp and 19 bp. The result is a frame-shift within exon 1 that truncates the protein. Northern analysis from kidney and liver revealed the presenceof transcript in homozygous mutant animals at reduced levels compared to wild-type. (J:74701)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 assay results
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 Cys1 Mutation:  2 strains or lines available
References
Original:  J:31533 Russell ES, et al., Cystic kidneys, ck. Mouse News Lett. 1977;56:40
All:  44 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory