| Primary Identifier | MGI:1339795 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 13006 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity; cis-regulatory region sequence-specific DNA binding activity; and mediator complex binding activity. Acts upstream of or within meiotic cell cycle and stem cell population maintenance. Located in lateral element. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study Cornelia de Lange syndrome 3. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 3; hepatocellular carcinoma; and intellectual disability. Orthologous to human SMC3 (structural maintenance of chromosomes 3). PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Mice heterozygous for a null allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. Mice heterozygous for a different null allele show abnormal dendrite and synapse formation in the cerebral cortex and increased anxiety-related behavior. [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
