| Primary Identifier | MGI:1919680 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 108902 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable glucuronosyltransferase activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and thymus. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A13. Orthologous to human B4GAT1 (beta-1,4-glucuronyltransferase 1). PHENOTYPE: Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers. Homozygotes for a different null allele are embryonic lethal and show small embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, and failure to gastrulate. Homozygotes for a hypomorphic allele show mild muscular dystrophy, abnormal axon guidance and fasciculation, and abnormal dorsal funiculus. [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
