Nucleotide substitution: C538T.
The mutation position was reported in nucleotide position with respect to the CDS of the 2291aa isoform.
Amino acid replacement: ??term.
C17661721T
C538T
Q180term | beta-Spec-PA; Q180term | beta-Spec-PB; Q180term | beta-Spec-PC
??term
Mutation site reported in terms of nucleotide position with respect to the beta-Spec-RA CDS.
Stage 14 mutant embryos have axon structures that loop out into the central nervous system cortex at the point where commissural axons normally enter the connectives. The longitudinal connectives are found closer to the midline and appear thinner than normal in stage 16 mutant embryos. In addition, the segmental commissures are not clearly separated and appear slightly fused.
Specification of the Sema-2b-positive neurons is not affected in β-SpecS012 embryos, however, the structure of the Sema-2b-positive fascicle is severely altered, with the fascicle appearing irregular and being found closer to the central nervous system (CNS) midline than normal. The Sema-2b-positive cell bodies are often shifted towards the CNS midline.
β-SpecS012 is partially rescued by Scer\GAL4elav.PLu/β-SpecUAS.cHa