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Human Disease and Mouse Model Detail
Human Disease

Term: Diabetes Mellitus, Permanent Neonatal; PNDM
OMIM ID: 606176

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...
Ins2 INS
  mousehuman...both mouse and human orthologous genes.
     
Abcc8 ABCC8
Gck GCK
Kcnj11 KCNJ11
Pdx1 PDX1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Ins2Akita/Ins2Akita   C57BL/6-Ins2Akita J:47883
Models with phenotypic similarity to human disease where etiologies are distinct.2
Gt(ROSA)26Sortm1(CAG-Kcnj11*,-GFP)Nich/Gt(ROSA)26Sor+
Tg(Ins2-cre)23Herr/0		 3 involves: C57BL/6 * CBA/J J:146650
Gt(ROSA)26Sortm1(Kcnj11*V59M)Fmas/Gt(ROSA)26Sor+
Tg(Ins2-cre)23Herr/0		 3 involves: 129S4/SvJae * C57BL/6 J:144715
Gt(ROSA)26Sortm1(Kcnj11*V59M)Fmas/Gt(ROSA)26Sor+
Tg(Nes-cre)1Kln/0		 3 involves: 129S4/SvJae * C57BL/6 * SJL J:162008

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Conditionally 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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory