| Primary Identifier | MGI:1098239 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 16576 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and positive regulation of smoothened signaling pathway. Acts upstream of or within aorta development; cardiac septum development; and coronary vasculature development. Located in ciliary basal body and ciliary tip. Is expressed in several structures, including brain; genitourinary system; and secondary heart field. Used to study acrocallosal syndrome; ciliopathy; congenital diaphragmatic hernia; and hydrolethalus syndrome. Human ortholog(s) of this gene implicated in acrocallosal syndrome; cleft lip; and hydrolethalus syndrome 2. Orthologous to human KIF7 (kinesin family member 7). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. [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
