This allele is the result of a 1 kb intracisternal A particle (IAP) transposon insertion. Genomic Southern hybridization analysis places the insertion just upstream of exon 2. (J:19977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count