| Primary Identifier | MGI:99460 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 18131 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables enzyme binding activity. Involved in Notch signaling pathway; glomerular capillary formation; and positive regulation of smooth muscle cell proliferation. Acts upstream of or within several processes, including artery morphogenesis; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study CADASIL 1. Human ortholog(s) of this gene implicated in CADASIL 1; infantile myofibromatosis; and lateral meningocele syndrome. Orthologous to human NOTCH3 (notch receptor 3). PHENOTYPE: Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed. [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
