Primary Identifier | MGI:1914434 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 67184 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable ATP binding activity. Acts upstream of or within extrinsic apoptotic signaling pathway. Located in mitochondrion and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; heart; and oocyte. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 28 and thyroid gland Hurthle cell carcinoma. Orthologous to human NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13). PHENOTYPE: Homozygous null mice display embryonic lethality, failed gastrulation, absent organogenesis, small and abnormal inner cell mass and trophoblast, and abnormal mitochondria. Mice heterozygous for a different allele exhibit oligospermia, asthenozoospermia, and increased oxidative stress and apoptosis in sperm. [provided by MGI curators] |