Primary Identifier | MGI:3036255 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 237500 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within several processes, including lung development; muscle cell development; and post-embryonic development. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in lissencephaly 8. Orthologous to human TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3). PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. [provided by MGI curators] |