This allele was generated using CRISPR/Cas9 technology with an sgRNA and a template oligonucleotide. Serine codon 1712 (TCT) was replaced with a aspartic acid codon (GAC), which creates a phosphomimetic p.S1712D mutation that leads to a constitutively active enzyme. (J:278360)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count