| 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 9.1.0) Enables ubiquitin protein ligase activity. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and protein ubiquitination. Predicted to be located in nucleolus and nucleoplasm. 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
