| Primary Identifier | MGI:1098270 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 16450 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables Notch binding activity. Involved in auditory receptor cell fate commitment; gamma-delta T cell differentiation; and positive regulation of Notch signaling pathway. Acts upstream of or within several processes, including epithelial cell apoptotic process involved in palatal shelf morphogenesis; odontogenesis of dentin-containing tooth; and respiratory system process. Located in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and surface ectoderm. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy. Orthologous to human JAG2 (jagged canonical Notch ligand 2). PHENOTYPE: Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. [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
