| Primary Identifier | MGI:2442062 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 268396 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Located in cytoplasm and podosome. Is expressed in several structures, including branchial arch; central nervous system; heart; jaw; and skeleton. Used to study Frank-Ter Haar syndrome; glaucoma; and otitis media. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B). PHENOTYPE: Homozygous mutations of this gene result in decreased body size, pronounced craniofacial, skeletal, and cardiac defects, infertility, and eye anomalies including anterior segment dysgenesis, corneal opacities, and ocular hypertension. Mice homozygous for a spontaneous allele exhibit a calvarial phenotype characterized by disrupted suture patterning, reduced osteoregeneration, decreased cell proliferation, and impaired migration and podosome formation in neural crest-derived cells and tissues. [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
