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Human Disease and Mouse Model Detail
Human Disease

Term: Jervell and Lange-Nielsen Syndrome 1; JLNS1
OMIM ID: 220400

Synonyms Cardioauditory Syndrome of Jervell and Lange-Nielsen; Deafness, Congenital, and Functional Heart Disease; Prolonged QT Interval in EKG and Sudden Death; Surdo-Cardiac 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...
Kcnq1 KCNQ1
  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
Kcnq1tm1Apf/Kcnq1tm1Apf   involves: 129P2/OlaHsd * C57BL/6 J:110797
Kcnq1tm1Kpfe/Kcnq1tm1Kpfe   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:67873
Kcnq1tm2Kpfe/Kcnq1tm2Kpfe   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N J:93197

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