Primary Identifier | MGI:1918115 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 69605 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Acts upstream of or within blood coagulation; embryonic limb morphogenesis; and regulation of chondrocyte differentiation. Predicted to be located in endoplasmic reticulum tubular network membrane and nucleoplasm. Predicted to be active in endoplasmic reticulum tubular network. Is expressed in several structures, including brain; ganglia; limb; limb bud; and reproductive system. Orthologous to human LNPK (lunapark, ER junction formation factor). PHENOTYPE: A semidominant X-ray-induced mutation results in severe length reductions of forelimb and hindlimb zeugopods, near absence of ulna, abnormal articulations in the carpus and tarsus, and genetic background-sensitive postnatal survival; heterozygous males do not breed and show increased bleeding times. [provided by MGI curators] |