| Primary Identifier | MGI:109447 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 13018 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity and cis-regulatory region sequence-specific DNA binding activity. Involved in chromatin looping; negative regulation of gene expression; and positive regulation of gene expression. Acts upstream of or within several processes, including cardiac muscle cell development; epigenetic regulation of gene expression; and negative regulation of transcription by RNA polymerase II. Located in male germ cell nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and limb. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 21; basal cell carcinoma; female breast cancer; skin melanoma; and skin squamous cell carcinoma. Orthologous to human CTCF (CCCTC-binding factor). PHENOTYPE: Mice homozygous for a null allele die prior to implantation. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells. Heterozygosity for the p.R567W mutation leads to thin body, while homozygosity affects heart, lung and neuronal development, leading to death shortly after birth. [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
