CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 186 altering threonine to serine (T186S; ACT to TCG) with two silent mutations (I185I, ATA to ATT, and L191L, CTT to TTA) in exon 6. The mutation is homologous to human T185S and is associated with frontotemporal lobar degeneration. (J:343012)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count