| Primary Identifier | MGI:96533 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 16147 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables patched binding activity. Involved in several processes, including endochondral bone morphogenesis; heart looping; and regulation of T cell differentiation. Acts upstream of or within several processes, including camera-type eye development; skeletal system development; and tube morphogenesis. Located in extracellular matrix. Is expressed in several structures, including alimentary system; genitourinary system; limb; retina; and skeleton. Used to study Hirschsprung's disease; annular pancreas; and brachydactyly type A1. Human ortholog(s) of this gene implicated in acrocapitofemoral dysplasia; brachydactyly type A1; retinopathy of prematurity; and syndactyly type 1. Orthologous to human IHH (Indian hedgehog signaling molecule). PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [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
