All seven KSP repeats (including KSD, KESP and KAESP) in exon 3 were targeted for replacement of the serine codon with a glutamate codon. This prevents serine phosphorylation in the translated peptide. Additionally, the Nefl 3' UTR and a neomycin resistance gene cassette were inserted into the 3' UTR in exon 3. (J:269582)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count