Primary Identifier | MGI:109558 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 21748 |
Mgi Type | telomerase RNA gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables telomerase activity. Acts upstream of or within several processes, including determination of adult lifespan; hemopoiesis; and positive regulation of telomere maintenance via telomerase. Is expressed in embryo. Used to study Duchenne muscular dystrophy; Werner syndrome; and osteoporosis. PHENOTYPE: Early generation mice homozygous for a null allele have intact telomeres and appear grossly unaffected and healthy, whereas late generation mutants exhibit premature death, shortened and dysfunctional telomeres, apoptotic and proliferative defects, infertility, and multi-organ degenerative decline. [provided by MGI curators] |