Clcc1^m1J
Spontaneous Allele Detail

Summary

• Symbol: Clcc1^m1J
• 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: Clcc1^m1J page

Mutation origin

• Strain of Origin: C3H/HeSnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: The 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)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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: 41 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: 2 reference(s)