This mutation was induced by the insertion of an early transposon II- into intron 8 of the gene locus. The 5,543-bp ETn II- was integrated into intron 8, 203 bp away from the initial nucleotide of intron 8; it was flanked by a duplicated 6-bp repeat (ACTAGG) that originated from genomic sequence. 183-bp of this insertion acted as a pseudo exon by being transcribed in-frame, which disrupted the normal coding sequence for the extracellular cadherin repeat 3 (EC3) domain of the gene product. (J:140028)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count