Human Disease and Mouse Model Detail

Human Disease

Term: Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2
OMIM ID: 601820

Synonyms

Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia; Hyperinsulinemic Hypoglycemia, Persistent; Hyperinsulinism, Congenital; Hyperinsulinism, Familial; Hyperinsulinism, Neonatal; Nesidioblastosis; Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI

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...

Gck

GCK

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Kcnj11

KCNJ11

...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	Ref(s)
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Gck^tm3Mgn/Gck⁺			B6.129S6-Gck^tm3Mgn	J:121910
No similarity to the expected human disease phenotype was found.²
NOT	Abcc8^tm1.1Mgn/Abcc8^tm1.1Mgn		involves: 129X1/SvJ * C57BL/6	J:79352
NOT	Abcc8^tm1Jbry/Abcc8^tm1Jbry		involves: 129X1/SvJ * C57BL/6	J:61356

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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