Primary Identifier | MGI:105082 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 107513 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Located in endoplasmic reticulum. Is expressed in several structures, including bone; genitourinary system; pancreas; respiratory system; and tooth. Orthologous to human SSR1 (signal sequence receptor subunit 1). PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality, subcutaneous edema, and cardiac defects, including absence of septation of the proximal part of the outflow tract, double outlet right ventricle, persistent truncus arteriosis, and abnormal development of the endocardial cushion. [provided by MGI curators] |