| Primary Identifier | MGI:3036280 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 214593 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable NAD(P)H oxidase H2O2-forming activity; calcium ion binding activity; and superoxide-generating NAD(P)H oxidase activity. Acts upstream of or within several processes, including bone mineralization; endocrine system development; and thyroid hormone metabolic process. Predicted to be located in several cellular components, including cell leading edge; cell surface; and endoplasmic reticulum. Predicted to be part of NADPH oxidase complex. Predicted to be active in plasma membrane. Is expressed in placenta and thyroid gland. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in congenital hypothyroidism and thyroid dyshormonogenesis 6. Orthologous to human DUOX2 (dual oxidase 2). PHENOTYPE: Mice homozygous for a spontaneous mutation fail to breed and are congenitally hypothyroid (low T4, high TSH), dwarf, and hearing impaired. Anterior pituitaries are dysplastic. Cochlear defects include delayed formation of the inner sulcus and tunnel of Corti and a thickened tectorial membrane. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
