CRISPR-Cas9 methodology generated an 8-bp deletion (74-81 bp) in exon 2 of the gene that was predicted to cause a frame-shift and generate terminal codons at multiple positions. Western blot and immunohistochemistry experiments showed that no encoded protein was present in tissues of homozygous mutant embryos. (J:239403)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count