| Primary Identifier | MGI:2139360 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 99377 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including chordate embryonic development; embryonic limb morphogenesis; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of heterochromatin. Is expressed in several structures, including central nervous system; early conceptus; embryo mesenchyme; reproductive system; and sensory organ. Used to study Duane-radial ray syndrome and otitis media. Human ortholog(s) of this gene implicated in Duane retraction syndrome; Duane-radial ray syndrome; Holt-Oram syndrome; IVIC syndrome; and ventricular septal defect. Orthologous to human SALL4 (spalt like transcription factor 4). PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia. [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
