CRISPR/cas9 mediated recombination created a 2 bp deletion resulting in a frame-shift mutation.The mutation results in expression of a truncated protein lacking the transmembrane domains. (J:306057)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count