CRISPR/Cas9 technology generated a 19 bp (ATCTCAGTCCAGGAGGAGA) deletion in exon 3 from position 237 to 256. Western blot analysis confirmed absence of protein in liver, kidney, cortex and lens. (J:301838)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count