Exon 6 was replaced with one in which nucleotide substitution (A to C) result in the amino acid substitution of alanine for glutamic acid at position 211 (E211A). A floxed neo cassette inserted downstream of the modified neo cassette was removed by cre mediated recombination. This substitution results converts the Cl-/H+ transporter into a Cl- conductor (uncoupled). (J:160701)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count