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Clcc1m1J
Spontaneous Allele Detail
Summary
Symbol: Clcc1m1J
Name: chloride channel CLIC-like 1; mutation 1, Jackson
MGI ID: MGI:5618134
Synonyms: nm2453, sprawler
Gene: Clcc1  Location: Chr3:108561229-108586156 bp, + strand  Genetic Position: Chr3, 47.49 cM
Alliance: Clcc1m1J page
Mutation
origin
Strain of Origin:  C3H/HeSnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsThe mutation is an intracisternal A-particle (IAP) retrotransposon insertion into a C3H/HeSnJ genomic region. The IAP is inserted into intron 2 of the gene and disrupts the normal splicing of the mRNA transcribed from this gene. Resulting in-frame stop codons from the insertion of IAP sequences resulted in severely reduced protein levels in mutant tissues. The retrotransposition of this IAP is a recent event occurring during, or after, the establishment of the C3H/HeSn substrain. (J:218443)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Clcc1 Mutation:  33 strains or lines available
References
Original:  J:218443 Jia Y, et al., Loss of Clcc1 Results in ER Stress, Misfolded Protein Accumulation, and Neurodegeneration. J Neurosci. 2015 Feb 18;35(7):3001-9
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
01/17/2023
MGI 6.22
The Jackson Laboratory