Primary Identifier | MGI:98813 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 22018 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable peroxidase activity. Predicted to be involved in embryonic hemopoiesis. Located in mitochondrion. Is expressed in lung; placenta; thyroid gland; and trophectoderm. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in congenital hypothyroidism; glomerulonephritis; and thyroid dyshormonogenesis 2A. Orthologous to human TPO (thyroid peroxidase). PHENOTYPE: Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. [provided by MGI curators] |