LoxP sites were inserted to flank exons 6-8. The exon 6 within the vector contained a G286S substitution. After homologous recombination, Cre-recombinase treatment in the ES cells results in the elimination of exons 6-8 making a non-functional protein truncated at the beginning of the pore-forming P-segment. (J:105924)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count