A stop codon was introduced into exon 2 and replaced part of exons 2 and 3 with a neo cassette. Flow cytometry confirmed the absence of protein expression. (J:183088, J:193308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count