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Human Disease and Mouse Model Detail
Human Disease

Term: Nijmegen Breakage Syndrome
OMIM ID: 251260

Synonyms Ataxia-Telangiectasia Variant V1; AT-V1; Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies; NBS; Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence; Seemanova Syndrome II
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...
Nbn NBN
  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
Nbntm1.1Md/Nbntm1.1Md   involves: 129/Sv * 129P2/OlaHsd J:93598
Nbntm1Jpt/Nbntm1Jpt   involves: 129S7/SvEvBrd J:75956
Nbntm1Md/Nbntm1Zqw
Tg(Mx1-cre)1Cgn/0
2 involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA J:93598
Nbntm1Nus/Nbntm2Nus
Tg(CD19-cre/ERT2)1Cgn/0
2 Not Specified J:96102
Nbntm1Xu/Nbntm1Xu   Not Specified J:75272
Nbntm1Zqw/Nbn+   involves: 129S2/SvPas * C57BL/6 J:86563
Nbntm1Zqw/Nbntm1Zqw   involves: 129S2/SvPas * C57BL/6 J:86563

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