Primary Identifier | MGI:106925 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 18417 |
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. Acts upstream of or within axon ensheathment; cell adhesion; and spermatogenesis. Located in basal part of cell and bicellular tight junction. Is expressed in several structures, including alimentary system; bone; embryo mesenchyme; meninges; and pectoralis. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 22. Orthologous to human CLDN11 (claudin 11). PHENOTYPE: Homozygous null mice exhibit tremors, impaired coordination, hindlimb weakness, abnormal myelination of the cranial nerves, increased auditory thresholds, and abnormal stria vascularis. Mutant males have small testes, abnormal seminiferous tubules, and sperm abnormalities resulting in infertility. [provided by MGI curators] |