| Primary Identifier | MGI:2384768 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 207304 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables ubiquitin protein ligase activity. Involved in neural tube closure. Acts upstream of or within several processes, including cell differentiation involved in embryonic placenta development; circulatory system development; and protein ubiquitination. Predicted to be active in nuclear speck. Is expressed in several structures, including extraembryonic component; genitourinary system; heart; hemolymphoid system gland; and lung. Orthologous to human HECTD1 (HECT domain E3 ubiquitin protein ligase 1). PHENOTYPE: Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects. [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
