Clcn3^tm2.1Tjj

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)