A point mutation results in the amino acid substitution of alanine for threonine at position 529 (T529A). Cre-mediated recombination removed an intronic neo selection cassette. (J:180872)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count