Exon 6 was replaced with an FRT-flanked neo cassette and a modified exon 6 in which an A to G transition results in the amino acid substitution of alanine for threonine at position 243 (T243A). This mutation is designed to prevent activation by WNK isoforms. Flp-mediated recombination removed the neo cassette. (J:191566)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count