A nucleotide transversion converted codon TTC to ATC resulting in the amino acid substitution of phenylalanine for isoleucine at position 268 (I268F). A floxed neo cassette used for selection purposes was removed by germ line, cre-mediated recombination. (J:137156)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count