A loxP site was inserted into exon5 and a loxP-flanked neo was inserted in intron 8. The exon 6 within the vector contained a G286S substitution. The G286S substitution lies within the conserved GYG motif in the P-segment and abolishes channel activity in homomeric mutant channels as well as in a heteromer with wild-type subunits. Cre-recombinase treatment after homologous recombination in the ES cells removed the neo cassette resulting in a dominant negative mutation. (J:105924)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count