Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is a progressive disorder characterized by loss of motor coordination and balance accompanied by other neurodegenerative problems including speech and swallowing issues, muscle stiffness/weakness and eventual muscle atrophy, cognitive impairments, and dementia. SCA1 is one of several diseases caused by an increase in the number of CAG repeats within the coding region of the disease gene (in this case the Ataxin 1/ATXN1 gene). Fly stocks in the Bloomington collection that can be used to study SCA1 are listed here.

General Information links for Spinocerebellar ataxia type 1:

Fly Atx-1 and Human ATXN1
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
Atx-1P{UAS-Atx-1.T}MBR39741Expresses wildtype fly Atx-1 under the control of UAS
ATXN1 (human)P{UAS-Hsap\ATX1.30Q}F639739Expresses human Ataxin 1 with the normal number (30) of CAG repeats under the control of UAS.
ATXN1 (human)P{UAS-Hsap\ATX1.82Q}M633818Expresses human Ataxin1 (ATX1 or SCA1) with a long polyQ (glutamine) repeat of 82 amino acids under the control of UAS.
ATXN1 (human)P{UAS-Hsap\ATX1.82Q}F739740Expresses human Ataxin 1 with an expanded number (82) of CAG repeats under the control of UAS.
ATXN1 (human)P{UAS-Hsap\ATX1.2Q}F539738Expresses human Ataxin 1 with 2 CAG repeats under the control of UAS.

Loading...
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments