5bp deletion (of nucleotides GACAC) in exon 10, resulting in a frameshift at amino acid residue D334 and a stop codon at residue 441.
5 bp deletion of nucleotides GACAC) in exon 10, resulting in a frameshift.
Denticle bands of all segments narrow. Both head skeleton ventral arms and anal plates fused. In the ventral nervous system, transverse commissures lacking entirely. Midline neurons and supportive mesectodermal cells missing. Germline viable with no maternal component. Deficiency test indicates that sim1 is amorphic.
CNS defect: specific alterations in the pattern of precursors that give rise to the 2 MP1 progeny, ventral unpaired median neurons and the specialized ectodermal cells, the midline ectodermal cells (MEC).
Mutation has no effect on rhohs.sev rough eye phenotype.
Schalet.