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Human Disease and Mouse Model Detail
Human Disease

Term: Cerebral Amyloid Angiopathy, Itm2b-Related, 2
OMIM ID: 117300

Synonyms Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis; Dementia, Familial Danish; FDD; Familial Danish Dementia; Heredopathia Ophthalmootoencephalica; HOOE
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...
Itm2b ITM2B
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(Prnp-ITM2B*)1Ruvi   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Prnp-ITM2B*)7Jckr

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Itm2btm1.1Ldad/Itm2b+   B6.129-Itm2btm1.1Ldad J:167154
Itm2btm2.1Ldad/Itm2b+   B6.129-Itm2btm2.1Ldad J:167154
Models involving transgenes or other mutation types.2
Tg(Prnp-ITM2B*)1Ruvi/?   B6.C3Fe-Tg(Prnp-ITM2B*)1Ruvi J:155720
Tg(Prnp-ITM2B*)7Jckr/0   C57BL/6-Tg(Prnp-ITM2B*)7Jckr J:159279
No similarity to the expected human disease phenotype was found.3
NOT Itm2btm2.1Ldad/Itm2btm2.1Ldad   B6.129-Itm2btm2.1Ldad J:155411

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