| Primary Identifier | MGI:1930618 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 79264 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in cell redox homeostasis; negative regulation of angiogenesis; and regulation of establishment of cell polarity. Located in cytoplasm. Part of protein-containing complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and reproductive system. Used to study cerebral cavernous malformation. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing). PHENOTYPE: Targeted disruption of this gene results in embryonic lethality by E11. Embryos display prominent vascular defects that disrupt arterial modeling and phenocopy the human disorder of cerebral cavernous malformations. [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
