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Human Disease and Mouse Model Detail
Human Disease

Term: Creutzfeldt-Jakob Disease; CJD
OMIM ID: 123400

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.
     
H2-Ab1 HLA-DQB1
  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(Prnp*D177N*M128V)A21Rchi   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Prnp*)#Rgab

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Prnptm1(PRNP)Tkit/Prnptm1(PRNP)Tkit   Not Specified J:86603
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*)#Rgab/0
  involves: 129S7/SvEvBrd * C57BL/6 * FVB/N J:183170
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*D177N*M128V)A21Rchi/0
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:142098
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*D177N*M128V)A21Rchi/Tg(Prnp*D177N*M128V)A21Rchi
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:142098
Models involving transgenes or other mutation types.2
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*)#Rgab/0
  involves: 129S7/SvEvBrd * C57BL/6 * FVB/N J:183170
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*D177N*M128V)A21Rchi/0
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:142098
Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*D177N*M128V)A21Rchi/Tg(Prnp*D177N*M128V)A21Rchi
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:142098
Tg(Prnp*)#Rgab/0   involves: C57BL/6 * FVB/N J:183170
Tg(Prnp*D177N*M128V)A21Rchi/0   involves: C57BL/6 * CBA J:142098
Tg(Prnp*D177N*M128V)A21Rchi/Tg(Prnp*D177N*M128V)A21Rchi   involves: C57BL/6 * CBA J:142098
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 Prnptm1Miy/Prnptm1Miy   involves: 129S4/SvJae * C57BL/6 J:69186
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