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Human Disease and Mouse Model Detail
Human Disease

Term: Alexander Disease
OMIM ID: 203450

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...
Gfap GFAP
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(GFAP)10Mes   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(GFAP)7Mes
Tg(Gfap-GFAP*R239H)60TMIke

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Gfaptm1Hgmn/Gfap+   involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N J:114689
Gfaptm2Hgmn/Gfap+
Tg(GFAP)10Mes/0
  involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N J:114689
Gfaptm2Hgmn/Gfap+   involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N J:114689
Gfaptm2Hgmn/Gfap+
Tg(GFAP)10Mes/0
  involves: 129S7/SvEvBrd * FVB/N J:146191
Models involving transgenes or other mutation types.2
Gfaptm2Hgmn/Gfap+
Tg(GFAP)10Mes/0
  involves: 129S6/SvEvTac * 129S7/SvEvBrd * FVB/N J:114689
Gfaptm2Hgmn/Gfap+
Tg(GFAP)10Mes/0
  involves: 129S7/SvEvBrd * FVB/N J:146191
Tg(GFAP)10Mes/0   involves: FVB/N J:99256
Tg(GFAP)7Mes/0   involves: FVB/N J:99256
Tg(Gfap-GFAP*R239H)60TMIke/0   involves: C57BL/6J J:138318, J:139349

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