Machado-Joseph Disease

Machado-Joseph Disease (MJD), also known as Spinocerebellar Ataxia 3 (SCA3), is a progressive disorder characterized by loss of motor coordination, spasticity, and impaired eye movements. MJD 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-3/MJD gene) and subsequent translation of those repeats into an expanded polyglutamine (polyQ) tract in the protein. Fly stocks in the Bloomington collection that can be used to study MJD are listed here.

General Information links for Machado-Joseph disease:

General information links for ataxin 3:


SPG1 Human ataxin-3 (ATXN3)
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
ATXN3 (human)P{UAS-hATXN3.tr-Q27}N18.3d8149Expresses a HA-tagged C-terminal fragment of the human Ataxin3 (MJD or SCA3) protein with a normal 27 repeat polyglutamine tract.
ATXN3 (human)P{UAS-hATXN3.fl-Q27.myc}46.233609Expresses N-terminally myc-tagged full length human Ataxin3 (MJD or SCA3) with a normal polyQ repeat of 27 amino acids.
ATXN3 (human)P{UAS-ATXN3.CAG14.HisMycHA}0240537Expresses human Ataxin3 (MJD or SCA3) with a wildtype stretch of 14 CAG repeats under the control of UAS. Each reading frame is tagged with a different tag [His(-1), Myc(0), HA(+1)].
ATXN3 (human)P{UAS-hATXN3.tr-Q78}c37.38141Expresses a HA-tagged C-terminal fragment of the human Ataxin3 (MJD or SCA3) protein with 78 repeat polyglutamine tract); weakly expressed line causing mild degeneration phenotype.
ATXN3 (human)P{UAS-hATXN3.tr-Q78}c211.28150Expresses a HA-tagged C-terminal fragment of the human Ataxin3 (MJD or SCA3) protein with a 78 repeat polyglutamine tract; strongly expressed line causing severe degeneration phenotype.
ATXN3 (human)P{UAS-hATXN3.fl-Q84.myc}7.233610Expresses N-terminally myc-tagged full length human Ataxin3 (MJD or SCA3) with a long polyQ repeat of 84 amino acids.
ATXN3 (human)P{UAS-ATXN3.STOP.CAG94.HAMycHis}0140536Expresses human Ataxin3 (MJD or SCA3) with an expanded stretch of 94 CAG repeats preceded by a stop codon under the control of UAS. Each reading frame is tagged with a different tag [HA(-1), Myc(0), His (+1)].
ATXN3 (human)P{UAS-ATXN3.STOP.CAA94.HAMycHis}0139758Expresses human Ataxin3 (MJD or SCA3) with an expanded stretch of 94 CAA repeats preceded by a stop codon under the control of UAS. Each reading frame is tagged with a different tag [HA(-1), Myc(0), His (+1)].
ATXN3 (human)P{UAS-ATXN3.CAG89.HisMycHA}0239757Expresses human Ataxin3 (MJD or SCA3) with an expanded stretch of 89 CAG repeats under the control of UAS. Each reading frame is tagged with a different tag [His(-1), Myc(0), HA(+1)].
ATXN3 (human)P{UAS-ATXN3.CAG89.HAMycHis}0140535Expresses human Ataxin3 (MJD or SCA3) with an expanded stretch of 89 CAG repeats under the control of UAS. Each reading frame is tagged with a different tag [HA(-1), Myc(0), His (+1)].
ATXN3 (human)P{UAS-ATXN3.CAA91.HisMycHA}0239756Expresses tagged human Ataxin3 (MJD or SCA3) with an expanded stretch of 91 CAA repeats under the control of UAS. Each reading frame is tagged with a different tag [His(-1), Myc(0), HA(+1)].
ATXN3 (human)P{QUAS-hATXN3.polyQ78}383345Expresses a human SCA3 with expanded glutamines under the control of QUAS. It serves as a disease model for SCA3.
ATXN3 (human)P{QUAS-hATXN3.polyQ27}583344Expresses a human SCA3 with 27 glutamines under the control of QUAS. It serves as a control for the SCA3 containing 78 glutamines.

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