Exon 5 was replaced by a modified exon 5 in which nucleotide substitution of a single A to T results in the amino acid substitution of phenylalanine for tyrosine at position 138 (Y138F). Two lox sites also remain inserted (one in intron 4, one in intron 9) after integration of the modified exon 5. (J:199075)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count