| Primary Identifier | MGI:1345643 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 24069 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-catenin binding activity. Involved in negative regulation of smoothened signaling pathway. Acts upstream of or within several processes, including circulatory system development; regulation of DNA-templated transcription; and smoothened signaling pathway involved in ventral spinal cord patterning. Located in cilium; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; sensory organ; and testis. Used to study nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 32; familial meningioma; medulloblastoma; and nevoid basal cell carcinoma syndrome 2. Orthologous to human SUFU (SUFU negative regulator of hedgehog signaling). PHENOTYPE: Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon. [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
