Primary Identifier | MGI:1923864 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 76614 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within mitochondrial calcium ion homeostasis and neuron cellular homeostasis. Located in mitochondrial intermembrane space. Is expressed in several structures, including cranial ganglion; gut; lung; medulla oblongata basal plate mantle layer; and skeletal musculature. Orthologous to human IMMT (inner membrane mitochondrial protein). PHENOTYPE: Embryos homozygous for a gene trapped allele show decreased size, massive apoptosis and complete embryonic lethality during organogenesis. Heterozygotes exhibit progressive neurological defects, altered brain structure, neuron loss, impaired mitochondrial structure and function, oxidative stress, and metabolic alterations. [provided by MGI curators] |