| Primary Identifier | MGI:1278315 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 16973 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables Wnt receptor activity and Wnt-protein binding activity. Involved in several processes, including cell surface receptor signaling pathway; osteoblast development; and positive regulation of osteoblast differentiation. Acts upstream of or within several processes, including embryonic morphogenesis; mammary gland development; and vasculature development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; bone remodeling disease (multiple); eye disease (multiple); osteoporosis-pseudoglioma syndrome; and polycystic liver disease. Orthologous to several human genes including LRP5 (LDL receptor related protein 5). PHENOTYPE: Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background. Homozygous knockout or ineducible KO in endothelial cells affects retinal angiogenesis. [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
