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Human Disease and Mouse Model Detail
Human Disease

Term: Gerstmann-Straussler Disease; GSD
OMIM ID: 137440

Synonyms Amyloidosis, Cerebral, with Spongiform Encephalopathy; Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns; Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type; Gerstmann-Straussler-Scheinker Disease; GSS; Prion Dementia
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
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(Prnp*A116V*M128V)1309Jama   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*A116V*M128V)1309Jama/0
  involves: 129S7/SvEvBrd J:151934
Models involving transgenes or other mutation types.2
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*A116V*M128V)1309Jama/0
  involves: 129S7/SvEvBrd J:151934
No similarity to the expected human disease phenotype was found.3
NOT Prnptm1Cwe/Prnptm1Cwe   involves: 129S7/SvEvBrd * C57BL/6 J:472
NOT Prnptm1Edin/Prnptm1Edin   129P2/OlaHsd-Prnptm1Edin J:58820
NOT Prnptm1Rcm/Prnptm1Rcm   129P2/OlaHsd-Prnptm1Rcm J:45908

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.
3One 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory