A point mutation was used to engineer the amino acid substitution of asparagine for isoleucine at position 268 (I268N). A floxed neo cassette was inserted into the intron upstream of the point mutation and was removed by germ line, cre mediated recombination. (J:145949)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count