Exon 16 was replaced with a floxed neo cassette and a modified exon 16 in which a point mutation (ACC to GCC) results in the amino acid substitution of alanine for threonine at position 668 (T668A). Cre-mediated recombination removed the neo cassette. (J:166989)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count