CRISPR/Cas9 technology generated a 135-bp deletion at the 5 end of the gene in exon 12, producing an allele containing a new splice donor site that mimics the alternatively spliced human isoform. (J:334211)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count