Primary Identifier | MGI:2685011 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233651 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable beta-catenin binding activity and cadherin binding activity. Involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; hippo signaling; and mitral valve morphogenesis. Acts upstream of or within several processes, including condensed mesenchymal cell proliferation; ossification involved in bone maturation; and post-anal tail morphogenesis. Located in apical part of cell. Is expressed in several structures, including alimentary system; central nervous system; heart; hemolymphoid system gland; and lung. Used to study mitral valve prolapse. Human ortholog(s) of this gene implicated in Van Maldergem syndrome 1 and mitral valve prolapse. Orthologous to human DCHS1 (dachsous cadherin-related 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, growth retardation, small lungs, abnormal cochlea morphology, abnormal kidney morphology, cardiovascular abnormalities and skeletal abnormalities. [provided by MGI curators] |