Primary Identifier | MGI:2447322 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 192161 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Acts upstream of or within aorta development; aortic valve development; and gene expression. Located in membrane. Is active in cell-cell contact zone. Is expressed in brain and gut. Orthologous to human PCDHA10 (protocadherin alpha 10). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiac hypertrophy, aorta hypoplasia and stenosis, and bicuspid aortic valve. [provided by MGI curators] |