Primary Identifier | MGI:1924348 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 234407 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in positive regulation of collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. Is expressed in axial skeleton and embryo. Human ortholog(s) of this gene implicated in brain small vessel disease 3. Orthologous to human COLGALT1 (collagen beta(1-O)galactosyltransferase 1). PHENOTYPE: Mice homozygous for a null allele display lethality during organogenesis, growth retardation, and abnormalities of the placenta and liver. Mice heterozygous for a null allele display impaired growth and increased susceptibility to live injury. [provided by MGI curators] |