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Human Disease and Mouse Model Detail
Human Disease

Term: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1; ICF1
OMIM ID: 242860

Synonyms Centromeric Instability, Immunodeficiency Syndrome; CIID; Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16; Immunodeficiency Syndrome, Variable
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...
Dnmt3b DNMT3B
  mousehuman...both mouse and human orthologous genes.
     
Dnmt3a DNMT3A
  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
Dnmt3atm1Enl/Dnmt3atm1Enl
Dnmt3btm1Enl/Dnmt3btm1Enl
  involves: 129S4/SvJae * C57BL/6 J:58298
Dnmt3btm1Enl/Dnmt3btm6Enl   involves: 129S4/SvJae * C57BL/6 J:106540
Dnmt3btm1Enl/Dnmt3btm7Enl   involves: 129S4/SvJae * C57BL/6 J:106540
Dnmt3btm1Enl/Dnmt3btm1Enl   involves: 129S4/SvJae * C57BL/6 J:58298
Dnmt3btm6Enl/Dnmt3btm6Enl   involves: 129S4/SvJae * C57BL/6 J:106540
Dnmt3btm6Enl/Dnmt3btm7Enl   involves: 129S4/SvJae * C57BL/6 J:106540
Dnmt3btm7Enl/Dnmt3btm7Enl   involves: 129S4/SvJae * C57BL/6 J:106540

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

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