| Primary Identifier | MGI:97491 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 18509 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in skeletal muscle satellite cell differentiation. Acts upstream of or within several processes, including nervous system development; positive regulation of myoblast proliferation; and skeletal system development. Is active in nucleus. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; sensory organ; and skeletal musculature. Human ortholog(s) of this gene implicated in alveolar rhabdomyosarcoma and congenital myopathy 19. Orthologous to human PAX7 (paired box 7). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit craniofacial malformations involving the nose and maxilla, and die within three weeks after birth. Mice homozygous for floxed alleles activated in muscle cells exhibit reduced satellite cell numbers and impaired muscle regeneration. [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
