Primary Identifier | MGI:2670964 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 212943 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables poly(A) RNA polymerase activity. Involved in positive regulation of bone mineralization and positive regulation of osteoblast differentiation. Acts upstream of or within response to bacterium. Located in cytoplasm. Is expressed in several structures, including heart; jaw; liver; oral epithelium; and skeleton. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. Orthologous to human TENT5A (terminal nucleotidyltransferase 5A). PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators] |