CRISPR/Cas9 technology generated a single nucleotide replacement of A to G in the first start codon (ATG to GTG) resulting in a knockdown of the betaA3 isoform. A silent mutation (ACC to ACG) was also introduced to prevent the binding and re-cutting of the sequence by gRNA after homology-directed repair. Western blot analysis confirmed the absence of the betaA3 isoform but also upregulation of the betaA1 isoform level is astrocytes. (J:306517)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count