| Primary Identifier | MGI:2138994 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 99011 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable mannosyltransferase activity. Acts upstream of or within extracellular matrix organization. Located in acrosomal vesicle and sarcoplasmic reticulum. Part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Is expressed in several structures, including central nervous system; eye; germ cell of gonad; heart; and hemolymphoid system gland. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1). PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
