Primary Identifier | MGI:88223 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 12259 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in complement-mediated synapse pruning; glial cell activation; and nervous system development. Acts upstream of or within complement activation, classical pathway. Located in postsynapse. Is active in glutamatergic synapse. Is extrinsic component of postsynaptic membrane and extrinsic component of presynaptic membrane. Is expressed in several structures, including brain; genitourinary system; lung; pancreas; and vestibular component mesenchyme. Used to study epilepsy and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in glomerulonephritis. Orthologous to human C1QA (complement C1q A chain). PHENOTYPE: Mice homozygous for a knock-out allele display absence seizures, glomerulonephritis, increased numbers of glomerular apoptotic bodies, high autoantibody titres, and increased mortality, with severity affected by genetic background. [provided by MGI curators] |