Primary Identifier | MGI:1298218 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 16974 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Wnt-protein binding activity; apolipoprotein binding activity; and toxin transmembrane transporter activity. Involved in cell surface receptor signaling pathway; positive regulation of neuron projection development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including central nervous system development; embryonic morphogenesis; and regionalization. Located in early endosome and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study neural tube defect and steatotic liver disease. Human ortholog(s) of this gene implicated in tooth agenesis. Orthologous to human LRP6 (LDL receptor related protein 6). PHENOTYPE: Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae. [provided by MGI curators] |