About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1
OMIM ID: 313200

Synonyms Bulbospinal Muscular Atrophy, X-Linked; Bulbospinal Neuronopathy, X-Linked Recessive; XBSN; Kennedy Disease; KD; Kennedy Spinal and Bulbar Muscular Atrophy; Spinal and Bulbar Muscular Atrophy; SBMA
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...
Ar AR
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(ACTA1-Ar)141Kyjo   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(AR*100Q)#Als
Tg(AR*100Q)C25Als
Tg(AR*100Q)C32Als
Tg(CAG-AR*97Q)7-8Sobu
Tg(Prnp-AR*112Q)#Deme

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Artm4(AR)Dmr/Y   involves: 129S1/Sv * C57BL/6J J:104360, J:114552
Models involving transgenes or other mutation types.2
Tg(ACTA1-Ar)141Kyjo/0   involves: C4 * C57BL/6J J:127205
Tg(AR*100Q)#Als/0   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:170487
Tg(AR*100Q)C25Als/0   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:89772
Tg(AR*100Q)C32Als/0   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:89772
Tg(CAG-AR*97Q)7-8Sobu/?   involves: C57BL/6 * C57BL/6J * DBA/2 J:128519
Tg(Prnp-AR*112Q)#Deme/0   involves: C57BL/6 * SJL J:134789

1Human genes are associated with this disease. Mouse model genotypes 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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/03/2013
MGI 5.12
The Jackson Laboratory