Clcn3^tm2.1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn3^tm2.1Tjj
• Name: chloride channel, voltage-sensitive 3; targeted mutation 2.1, Thomas J Jentsch
• MGI ID: MGI:7339241
• Synonyms: Clcn3^unc
• Gene: Clcn3 Location: Chr8:61363423-61436334 bp, - strand Genetic Position: Chr8, 30.9 cM
• Alliance: Clcn3^tm2.1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:297238
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to C change resulting in a glutamate to alanine substitution at amino acid 224 (p.E224A) was introduced in exon 5. Additionally, a neomycin resistance cassette flanked by FRT sites was introduced between exon 5 and 6. The neomycin cassette was removed via flp-mediated recombination. This is an uncoupling point mutation in the gating glutamate, a pore residue critically involved in 2Cl^-/H⁺-exchange. (J:297238)

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 Clcn3 Mutation: 119 strains or lines available

References

• Original: J:297238 Weinert S, et al., Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO J. 2020 May 4;39(9):e103358
• All: 1 reference(s)