Primary Identifier | MGI:1926021 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 78771 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Predicted to be involved in several processes, including negative regulation of endocytosis; negative regulation of response to oxidative stress; and regulation of neurotransmitter secretion. Predicted to be located in membrane and recycling endosome. Predicted to be active in synaptic vesicle membrane. Is expressed in brain. Orthologous to human MCTP1 (multiple C2 and transmembrane domain containing 1). PHENOTYPE: Homozygous null mice have normal hearing and inner ear structures. Mice homozygous for a spontaneous deletion that encompasses a cis-regulatory region crucial for Nr2f1 expression show circling, fused saccule and utricle, hearing loss, inner ear dysmorphology and disorganized cochlear hair cells. [provided by MGI curators] |