Clcn2^tm2.1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn2^tm2.1Tjj
• Name: chloride channel, voltage-sensitive 2; targeted mutation 2.1, Thomas J Jentsch
• MGI ID: MGI:5618265
• Synonyms: Clcn2^hyp
• Gene: Clcn2 Location: Chr16:20521714-20536496 bp, - strand Genetic Position: Chr16, 12.5 cM
• Alliance: Clcn2^tm2.1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210308
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted into intron 1 and a loxP site was inserted into intron 3 via homologous recombination. Cre mediated recombination removed the neo cassette leaving exons 2 and 3 floxed and creating a mis-spliced intronic region. The splicing error leads to a frameshift at amino acid 7 and a premature stop codon. (J:210308)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Clcn2 Mutation: 40 strains or lines available

References

• Original: J:210308 Hoegg-Beiler MB, et al., Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. Nat Commun. 2014;5:3475
• All: 1 reference(s)