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. qRT-PCR confirmed a 1000-fold reduction in transcript expression. (J:186155)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count