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Human Disease and Mouse Model Detail
Human Disease

Term: Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
OMIM ID: 147060

Synonyms Hies, Autosomal Dominant; Hyper-Ige Syndrome, Autosomal Dominant; Job Syndrome
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...
     
Rag1 RAG1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Stat3 STAT3
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Igh-J   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Igk-J
Tg(DO11.10)10Dlo

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Igh-Jtm1Mcdl/Igh-Jtm1Mcdl
Igk-Jtm1Mcdl/Igk-Jtm1Mcdl
Rag1tm1Mom/Rag1tm1Mom
Tg(DO11.10)10Dlo/?
  involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/c J:100072
Models involving transgenes or other mutation types.2
Igh-Jtm1Mcdl/Igh-Jtm1Mcdl
Igk-Jtm1Mcdl/Igk-Jtm1Mcdl
Rag1tm1Mom/Rag1tm1Mom
Tg(DO11.10)10Dlo/?
  involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/c J:100072

1Human genes are associated with this disease. Mouse model genotypes do not 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