| Primary Identifier | MGI:2442117 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 229584 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be involved in kinetochore assembly; mitotic sister chromatid cohesion; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within with a positive effect on double-strand break repair via homologous recombination. Predicted to be located in chromatin; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; early conceptus; genitourinary system; hemolymphoid system; and liver. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in White-Sutton syndrome. Orthologous to human POGZ (pogo transposable element derived with ZNF domain). PHENOTYPE: Mice homozygous for a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. Homozygosity for the p.Q1038R mutation is embryonic lethal, while heterozygosity affects embryonic cortical neuronal development and leads to autism-spectrum-disorder-like 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
