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Human Disease and Mouse Model Detail
Human Disease

Term: Seizures, Benign Familial Neonatal, 2; BFNS2
OMIM ID: 121201

Synonyms Convulsions, Benign Familial Neonatal, 2; BFNC2
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...
Kcnq3 KCNQ3
  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
Kcnq3tm1.1Naas/Kcnq3tm1.1Naas   FVB.129-Kcnq3tm1.1Naas J:154582
Kcnq3tm1.1Naas/Kcnq3+   involves: 129S1/Sv * 129X1/SvJ * FVB/N J:154582
Kcnq3tm1.1Naas/Kcnq3tm1.1Naas   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:154582
Kcnq3tm1.1Naas/Kcnq3+   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:154582
Kcnq3tm1.1Naas/Kcnq3tm1.1Naas   B6.129-Kcnq3tm1.1Naas J:154582

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