Exons 3 and 4 were replaced by a floxed neo/STOP cassette, a modified exon 3 with a G to T point mutation that results in an amino acid substitution of serine with alanine at position 80, and a normal exon 4. (J:147157)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count