CRISPR/Cas9 technology generated a global mutation, however information is not provided on the specific mutation except that the oligo-DNAs (5'-caccggagaatgccatcgaccgcg-3' and 5'-aaaccgcggtcgatggcattctcc-3') target all four isoforms. Real time PCR confirmed that levels of mRNA in the liver and heart are significantly lower in heterozygotes. (J:258198)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count