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Human Disease and Mouse Model Detail
Human Disease

Term: Machado-Joseph Disease; MJD
OMIM ID: 109150

Synonyms Azorean Neurologic Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia 3; SCA3; Spinocerebellar Atrophy III; Spinopontine Atrophy
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Prnp PRNP
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Atxn3 ATXN3
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(ATXN3*)67.2Cce   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(ATXN3*)84.2Cce
Tg(CMV-ATXN3*94Q)94Pama
Tg(Htt-ATXN3*148Q)3746Thsc
Tg(Prnp-ATXN3*79Q)#Hlw
Tg(Prnp-tTA)F959Sbp
Tg(tetO-ATXN3)2904Olri

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp
Tg(tetO-ATXN3)2904Olri/0
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/0
Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp
Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Models involving transgenes or other mutation types.2
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp
Tg(tetO-ATXN3)2904Olri/0
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/0
Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp
Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
  involves: 129S7/SvEvBrd * C57BL/6 * FVB J:154079
Tg(ATXN3*)67.2Cce/0
Tg(ATXN3*)84.2Cce/0
  involves: C57BL/6 * CBA J:76495
Tg(ATXN3*)67.2Cce/0   involves: C57BL/6 * CBA J:76495
Tg(ATXN3*)84.2Cce/0   involves: C57BL/6 * CBA J:76495
Tg(ATXN3*)84.2Cce/Tg(ATXN3*)84.2Cce   involves: C57BL/6 * CBA J:76495
Tg(CMV-ATXN3*94Q)94Pama/Tg(CMV-ATXN3*94Q)94Pama   B6.FVB-Tg(CMV-ATXN3*94Q)94Pama J:163032
Tg(CMV-ATXN3*94Q)94Pama/0   B6.FVB-Tg(CMV-ATXN3*94Q)94Pama J:163032
Tg(Htt-ATXN3*148Q)3746Thsc/0   involves: C57BL/6N J:156912
Tg(Prnp-ATXN3*79Q)#Hlw/0   FVB/N-Tg(Prnp-ATXN3*79Q)#Hlw J:138381

1Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory