在第3外显子前476个碱基对的位置插入了一个基因捕获载体,这个载体位于内含子2中,是第一个编码外显子。插入导致β-半乳糖苷酶基因的剪接异常,并丢失下游的mRNA。 (Source: The insertion creates an abnormal splicing event in the beta-galactosidase gene, leading to loss of downstream mRNA due to the gene-trapping cassette inserted 476 bases upstream of exon 3.)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count