Primary Identifier | MGI:1276112 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 12741 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Involved in negative regulation of gene expression; positive regulation of gene expression; and tight junction assembly. Located in bicellular tight junction and plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and submandibular gland primordium. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human CLDN5 (claudin 5). PHENOTYPE: Homozygous mutation of this gene results in size-selective loosening of the blood-brain barrier. Homozygous mutant neonates gradually cease movement and die within 10 hours after birth. [provided by MGI curators] |