| Primary Identifier | MGI:99833 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 19335 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activity. Involved in dorsal/ventral neural tube patterning and neural tube closure. Acts upstream of or within several processes, including embryonic digit morphogenesis; regulation of smoothened signaling pathway; and spinal cord dorsal/ventral patterning. Located in endosome membrane and plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; embryo mesenchyme; and genitourinary system. Human ortholog(s) of this gene implicated in Carpenter syndrome. Orthologous to human RAB23 (RAB23, member RAS oncogene family). PHENOTYPE: Mice homozygous for a spontaneous allele show neural tube defects, exencephaly, spinal cord and dorsal root ganglia anomalies, malformed eyes and defects in the axial skeleton and developing limbs. Mice homozygous for an ENU-induced allele die in utero with exencephaly, polydactyly and eye defects. [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
