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Human Disease and Mouse Model Detail
Human Disease

Term: Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy; CADASIL
OMIM ID: 125310

Synonyms CASIL; Dementia, Hereditary Multi-Infarct Type
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...
Notch3 NOTCH3
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Gt(ROSA)26Sortm2(NOTCH3*C455R)Sat/Gt(ROSA)26Sor+
Notch3Gt(PST033)Byg/Notch3Gt(PST033)Byg
Tg(Tagln-cre)1Her/0
4 involves: 129 * C57BL/6 * SJL J:171887
Gt(ROSA)26Sortm3(NOTCH3*R1031C)Sat/Gt(ROSA)26Sor+
Notch3Gt(PST033)Byg/Notch3Gt(PST033)Byg
Tg(Tagln-cre)1Her/0
4 involves: 129 * C57BL/6 * SJL J:171887
Notch3tm1.1Dwr/Notch3+   involves: 129S/SvEv * Swiss J:191454
Notch3tm1.1Dwr/Notch3tm1.1Dwr   involves: 129S/SvEv * Swiss J:191454
Models with phenotypic similarity to human disease where etiologies are distinct.2
Gt(ROSA)26Sortm3(NOTCH3*R1031C)Sat/Gt(ROSA)26Sor+
Tg(Tagln-cre)1Her/0
4 involves: 129S2/SvEv * 129S6/SvEvTac * C57BL/6 * SJL J:171887
No similarity to the expected human disease phenotype was found.3
NOT Notch3tm1Ul/Notch3tm1Ul   Not Specified J:95927
NOT Notch3tm1Ul/Notch3+   Not Specified J:95927

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
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.
4Conditionally targeted allele(s)

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