| 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 9.1.0) 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 plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study acute lymphoblastic leukemia and autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1. Human ortholog(s) of this gene implicated in autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; familial partial lipodystrophy type 1; infantile myofibromatosis 2; 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
