CRISPR/Cas9 methodologies were used to delete 698 bp deletion in exon 3. Protein expression is significantly reduced (by approximately 50% or more) as detected by western blot analysis of brain tissue from heterozygous female mice. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count