| Primary Identifier | MGI:2443157 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 225164 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within several processes, including Notch signaling pathway; chordate embryonic development; and circulatory system development. Located in cytoplasmic vesicle. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system gland; and skin. Human ortholog(s) of this gene implicated in left ventricular noncompaction. Orthologous to human MIB1 (MIB E3 ubiquitin protein ligase 1). PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure of heart looping, impaired angiogenesis and arterial specification, premature neuronal precursor differentiation, posterior truncation, and abnormal somitogenesis with loss of posterior markers. Compound heterozygous global and conditional cardiac KO results in embryonic heart anomalies. [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
