Primary Identifier | MGI:1915720 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 242291 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 3',5'-nucleotide bisphosphate phosphatase activity and 3'-nucleotidase activity. Acts upstream of or within several processes, including chondroitin sulfate metabolic process; embryonic digit morphogenesis; and skeletal system development. Located in trans-Golgi network membrane. Is expressed in brain; metanephros; respiratory system; rib; and spinal cord. Used to study chondrodysplasia with joint dislocations gPAPP type. Human ortholog(s) of this gene implicated in chondrodysplasia with joint dislocations gPAPP type. Orthologous to human BPNT2 (3'(2'), 5'-bisphosphate nucleotidase 2). PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators] |