Human Disease and Mouse Model Detail

Human Disease

Term: Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH
OMIM ID: 219080

Synonyms

Acth-Independent Cushing Syndrome; Acth-Independent Macronodular Adrenocortical Hyperplasia; Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia; Corticotropin-Independent Macronodular Adrenal Hyperplasia; Cushing Syndrome, Adrenal, Due to Aimah

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...

Nr3c1

NR3C1

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

Gnas

GNAS

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Tg(Crh)227.1Pbl

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Nr3c1^tm2Gsc/Nr3c1^tm2Gsc Tg(Nes-cre)1Kln/0	3	involves: 129P2/OlaHsd * C57BL/6J * SJL	J:57315
Models involving transgenes or other mutation types.²
Tg(Crh)227.1Pbl/0		C57BL/6	J:92996

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
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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