Exon 1 was replaced with one in which an A to T transition results in the amino acid substitution of tyrosine for phenylalanine at position 81 (F81Y). An FRT-flanked neo cassette was inserted downstream of exon 3. Flp-mediated recombination removed the neo cassette. Western blot analysis confirmed a 2-fold reduction in protein expression. (J:185275)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count