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 7.0.0) 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 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] |