Regulatory sites Thr180 and Tyr182 are replaced by alanine and phenylalanine, respectively. A floxed neo cassette inserted downstream of exon 8 was removed by germ line, cre mediated recombination. (J:120284, J:151980)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count