CRISPR/Cas9 technology generated a 22 bp deletion at the start of exon 3 resulting in a premature stop codon predicted to result in a nonsense-mediated decay. Homozygous mice express a 100-fold reduction in mRNA and Western blot analysis showed no detectable protein. (J:296080)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count