Serine at position 270 in exon 8 was replaced by a histidine. Flpe was expressed to remove an FRT-flanked neo from the locus. (J:105293, J:107477)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count