Primary Identifier | MGI:2685163 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 207209 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including bone mineralization involved in bone maturation; bone resorption; and odontogenesis. Predicted to be located in early endosome. Used to study autosomal recessive osteopetrosis 1. Orthologous to human CCDC154 (coiled-coil domain containing 154). PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure of tooth eruption, osteopetrosis, enlarged liver, decreased body size and premature death unless fed a liquid diet. [provided by MGI curators] |