Nucleotide substitution: G?A. Mutation changes the conserved 5' splice site of intron 7 from GT to AT, resulting in a failure to splice out the intron between exons 7 and 8. This introduces a premature stop codon that terminates the protein at amino acid residue 417.
G10834467A
G?A
Changes the conserved 5' splice site of intron 7 from GT to AT. As a result, intron 7 is not spliced out and a premature stop codon is introduced after amino acid 417.
macrochaeta (with sbr1)
sbrmgln/Y embryos show pathfinding errors in the ISNb pathway. ISNb axons may pass by the ventral muscle region (their normal target). Breaks are seen in the outermost Fas2-positive longitudinal fascicle in the central nervous system. sbr5/sbrmgln and sbrmgln/Df(1)v-L4 embryos show pathfinding errors in the ISNb pathway. sbr12/sbrmgln and sbr5/sbrmgln embryos show defects in muscle morphology (for example in muscles 6 and 7) at stage 16. sbr6/sbrmgln embryos show muscle defects including muscles that appear to have pulled out of their insertion sites. Females containing homozygous germ-line clones are sterile, have no discernible egg chambers and fail to lay eggs. sbr1/sbrmgln flies have smaller than normal macrochaetae on the notum and some are missing. The macrochaetae show a severe decrease in diameter and a decrease in external ridging compared to wild type. Many broken bristle shafts are seen. Somatic clones in the notum result in bristles that are severely reduced in size or absent.
