CRISPR/Cas9 technology was used to generate a null allele. Sequencing revealed several null alleles including c.-33_125_129delinsCTGTCTGTTT, c.-33_125_147del, c.258dupC, and c.234_257del, however the # is used as no line is specified and/or lines are pooled. Western blot analysis confirmed absence of protein in homozygotes. (J:273099)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count