A T to A mutation introduced a premature stop codon at the end of exon 14 and loxP sites were inserted flanking exon 15 and a neo-cassette. (J:138335)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count