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Human Disease and Mouse Model Detail
Human Disease

Term: Alagille Syndrome 1; ALGS1
OMIM ID: 118450

Synonyms Alagille Syndrome; ALGS; Alagille-Watson Syndrome; AWS; Arteriohepatic Dysplasia; AHD; Cholestasis with Peripheral Pulmonary Stenosis; Hepatic Ductular Hypoplasia, Syndromatic
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...
Jag1 JAG1
  mousehuman...both mouse and human orthologous genes.
     
Notch2 NOTCH2
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Jag1Mhdahtu/Jag1+   C3HeB/FeJ-Jag1Mhdahtu J:72108
Jag1tm1Frad/Jag1tm1Frad
Tg(Cdh5-cre)7Mlia/0
3 B6.Cg-Jag1tm1Frad Tg(Cdh5-cre)7Mlia J:189213
Jag1tm1Frad/Jag1tm1Frad
Tg(Tagln-cre)1Her/0
3 B6.Cg-Jag1tm1Frad Tg(Tagln-cre)1Her J:166890
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
  involves: 129S1/Sv * C57BL/6J J:74574
Jag1tm2Grid/Jag1tm2Grid
Tg(Wnt1-cre)11Rth/0
3 involves: 129S1/Sv * C57BL/6 * CBA J:181120
No similarity to the expected human disease phenotype was found.2
NOT Jag1tm1Grid/Jag1+   involves: 129S1/Sv * C57BL/6 * FVB J:54907

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2One 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.
3Conditionally 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