A floxed neo cassette was inserted upstream of exon 35 and a G to T mutation was inserted in exon 35 resulting in a glycine to cysteine mutation at codon 706. (J:178743)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count