A Lysine to Alanine change at reside 30 was created by a single point mutation within exon 1. A floxed neo selection cassette inserted within intron 3 has been removed by cre mediated recombination. (J:156867)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count