Exon 3 was floxed. A modified exon 3 with an A to T transversion that results in the amino acid substitution of phenylalanine for tyrsorine at position 129 (Y129F). Cre-mediated recombination is required to remove the wild-type exon 3 and allow for expression of the modified exon 3. (J:193938)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count