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Human Disease and Mouse Model Detail
Human Disease

Term: Spinocerebellar Ataxia 17; SCA17
OMIM ID: 607136

Synonyms Huntington Disease-Like 4; HDL4
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...
     
Tbp TBP
  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(Pcp2-TBP*)69Hmhl   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Prnp-TBP*)105Xjl
Tg(Prnp-TBP*)71-16Xjl
Tg(Prnp-TBP*)71-27Xjl

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models involving transgenes or other mutation types.1
Tg(Pcp2-TBP*)69Hmhl/0   involves: FVB/N J:174239
Tg(Prnp-TBP*)105Xjl/0   FVB/N-Tg(Prnp-TBP*)105Xjl J:130775
Tg(Prnp-TBP*)71-16Xjl/0   FVB/N-Tg(Prnp-TBP*)71-16Xjl J:130775
Tg(Prnp-TBP*)71-27Xjl/0   FVB/N-Tg(Prnp-TBP*)71-27Xjl J:130775
No similarity to the expected human disease phenotype was found.2
NOT Tg(Prnp-TBP*)13Xjl/0   FVB/N-Tg(Prnp-TBP*)13Xjl J:130775

1Models involving transgenes or other mutation types may also appear in other sections of the table.
2One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory