Primary Identifier | MGI:1890616 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 64706 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Acts upstream of or within positive regulation of smoothened signaling pathway. Predicted to be located in external side of plasma membrane. Predicted to be active in cell surface and extracellular space. Is expressed in several structures, including allantois; embryo ectoderm; embryo mesenchyme; forelimb bud; and genitourinary system. Orthologous to human SCUBE1 (signal peptide, CUB domain and EGF like domain containing 1). PHENOTYPE: A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia. [provided by MGI curators] |