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General Information
Name
spinocerebellar ataxia autosomal recessive 14
FlyBase ID
FBhh0000084
Overview

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]

Disease Summary Information
Parent Disease Summary: spinocerebellar ataxia, autosomal recessive
Symptoms and phenotype
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years (Palau and Espinos, 2006; pubmed:17112370).
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [from Gene Reviews, Hereditary Ataxia Overview; pubmed:20301317; 2017.06.16]
See also Jayadev and Bird, 2013 (pubmed:23538602).
Specific Disease Summary: spinocerebellar ataxia autosomal recessive 14
OMIM report
[SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14](https://omim.org/entry/615386)
Human gene(s) implicated
[SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2](https://omim.org/entry/604985)
Symptoms and phenotype
Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability (summary by Lise et al., 2012, pubmed:23236289). [From OMIM:615386, 2015.12.21]
Genetics
Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is caused by homozygous mutation in the SPTBN2 gene. Heterozygous mutation in the SPTBN2 gene causes autosomal dominant spinocerebellar ataxia-5 (SCA5; OMIM:600224, FBhh0000064).[From OMIM:615386, 2015.12.21]
Cellular phenotype and pathology
Molecular information
SPTBN2 is one of the subunits of spectrin, a heterotetramer made up of 2 alpha subunits and 2 beta subunits. Short actin filaments link spectrin tetramers together to form a flexible network that stabilizes cell contacts, channels, and adhesion molecules along the cytoplasmic face of membrane bilayers (summary by Clarkson et al., 2010, pubmed:20603325). [From OMIM:604985, 2015.10.29]
External links
Disease synonyms
SCAR14
Spectrin-associated autosomal recessive cerebellar ataxia 1
SPARCA1
spinocerebellar ataxia, autosomal recessive 14; SCAR14
autosomal recessive spinocerebellar ataxia 14
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)
Many to one (4 human to 1 Drosophila (See DIOPT, link below).
Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Synthetic Gene(s) Used (0)
    Summary of Physical Interactions (0 groups)
    Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
    Models Based on Experimental Evidence ( 2 )
    Modifiers Based on Experimental Evidence ( 1 )
    Allele
    Disease
    Interaction
    References
    Genetic Tools, Stocks and Reagents
    Sources of Stocks
    Contact lab of origin for a reagent not available from a public stock center.
    Bloomington Stock Center Disease Page
    Selected mammalian transgenes
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila transgenes
    Allele
    Transgene
    Publicly Available Stocks
    RNAi constructs available
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila classical alleles
    Allele
    Allele class
    Mutagen
    Publicly Available Stocks
    References (3)