| Primary Identifier | MGI:1333744 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14723 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in blood coagulation and megakaryocyte development. Acts upstream of or within cell morphogenesis and hemostasis. Located in cell surface. Colocalizes with external side of plasma membrane. Is expressed in dorsal root ganglion; embryo; liver; and spinal cord. Used to study Bernard-Soulier syndrome. Human ortholog(s) of this gene implicated in Bernard-Soulier syndrome; Bernard-Soulier syndrome type A2; myocardial infarction; non-arteritic anterior ischemic optic neuropathy; and platelet-type bleeding disorder 3. Orthologous to human GP1BA (glycoprotein Ib platelet subunit alpha). PHENOTYPE: Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. [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
