Primary Identifier | MGI:1336209 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 216131 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in early endosome to Golgi transport and intra-Golgi vesicle-mediated transport. Predicted to be located in cytoplasm. Predicted to be part of TRAPPII protein complex. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study agnathia-otocephaly complex and velocardiofacial syndrome. Orthologous to human TRAPPC10 (trafficking protein particle complex subunit 10). PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators] |