This report describes a potential model for autosomal recessive spinocerebellar ataxia 14 (SCAR14), which is a subtype of spinocerebellar ataxia. The human gene implicated in this disease is SPTBN2, which encodes non-erythrocytic beta spectrin 2, a subunit of the spectrin heterotetramer. This gene is also associated with the disease spinocerebellar ataxia 5 (OMIM:600224), which exhibits autosomal dominant inheritance. There is one high-scoring fly ortholog, β-Spec, for which RNAi targeting constructs, alleles caused by insertional mutagenesis, and classical amorphic alleles have been generated.
Multiple UAS constructs of the human Hsap\SPTBN2 gene have been introduced into flies, including wild-type SPTBN2 and SPTBN2 genes carrying mutational lesions.
Using variants implicated in spinocerebellar ataxia 5 (FBhh0000064), the work done thus far in flies specifically models that disease.
[updated Dec. 2017 by FlyBase; FBrf0222196]