Human Disease and Mouse Model Detail

Human Disease

Term: Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2
OMIM ID: 218700

Synonyms

Athyreotic Hypothyroidism; Hypothyroidism, Athyreotic; Hypothyroidism, Congenital, Due to Thyroid Dysgenesis; Resistance to Thyrotropin; RTSH; Thyroid Agenesis; Thyroid Dysgenesis; Thyroid, Ectopic; Thyroid Hypoplasia; Thyrotropin Resistance

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...

Pax8

PAX8

...both mouse and human orthologous genes.

Foxe1

FOXE1

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

Nkx2-5

NKX2-5

...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
Pax8^tm1(cre)Mbu/Pax8^tm1(cre)Mbu		involves: 129P2/OlaHsd * C3H/He * C57BL/6	J:80208
Pax8^tm1Pgr/Pax8^tm1Pgr		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	J:47310, J:116236
Models with phenotypic similarity to human disease where etiologies are distinct.²
Foxe1^tm1Rdl/Foxe1^tm1Rdl		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:48970

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12