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| Nomenclature |
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Symbol:
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Cys1cpk
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Name:
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cystin 1;
congenital polycystic kidneys
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MGI ID: |
MGI:1856831 |
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Synonyms: |
ck, cpk |
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Gene:
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Cys1
Location:
Chr12:24665838-24681813 bp, - strand
Genetic Position: Chr12,
8.49 cM
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Mutation
origin |
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Strain of Origin:
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B6.Cg-Bloc1s6pa
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: The 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 presence of transcript in homozygous mutant animals at reduced levels compared to wild-type. (J:74701)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Analysis Tools
