| Primary Identifier | MGI:2384974 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 217721 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables choline binding activity and choline transmembrane transporter activity. Involved in choline transport and transport across blood-brain barrier. Acts upstream of or within several processes, including brain development; endothelial tip cell fate specification; and in utero embryonic development. Is active in plasma membrane. Is expressed in several structures, including central nervous system and yolk sac. Used to study proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Human ortholog(s) of this gene implicated in proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Orthologous to human FLVCR2 (FLVCR choline and putative heme transporter 2). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, cyanosis, and impaired brain vasculature development. [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
