CRISPR/Cas9 technology generated a 13 bp deletion encompassing the intron 16/exon 17 junction which is expected to result in truncation of the last two exons which encode the C-terminal microtubule-binding domain and the farnesylation motif. Western blot analysis with an antibody against the C-terminus confirmed that the C-terminus is missing. Western blot with an antibody against an epitope upstream of the truncation show reduced protein levels. However, quantitative RT-PCR did not detect differences in mRNA levels, indicating that protein is destabilized. (J:273098)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count