| Primary Identifier | MGI:98371 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 20682 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; beta-catenin binding activity; and pre-mRNA intronic binding activity. Involved in several processes, including ERK1 and ERK2 cascade; kidney epithelium development; and positive regulation of morphogenesis of an epithelium. Acts upstream of or within several processes, including negative regulation of cell differentiation; skeletal system development; and tube morphogenesis. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; campomelic dysplasia; lung cancer; and lung carcinoma. Orthologous to human SOX9 (SRY-box transcription factor 9). PHENOTYPE: Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. A heterozygous otic-vesicle-specific conditional gain-of-function mutation leads to various vestibular and hearing-related phenotypes. [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
