To reduce the expression of the betaA1-crystallin isoform without affecting the protein sequence, 5 base pairs (CCACC) were knocked-in before the first start codon to strengthen the Kozak consensus sequence (CCACCATGG) using CRISPR/Cas9 technology. Western blot analysis confirmed a decrease is the betaA1 isoform expression is astrocytes. (J:306517)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count