| Primary Identifier | MGI:2446166 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 218518 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within cell-cell junction organization and sensory perception of sound. Located in Schmidt-Lanterman incisure; paranodal junction; and tight junction. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness 49. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 49. Orthologous to human MARVELD2 (MARVEL domain containing 2). PHENOTYPE: Mice homozygous for a knock-in mutation fisplay syndromic deafness with rapid progressive degeneration of the hair cells, increased body and organ weights and abnormal tricellular tight junctions. However, vestibular function is intact. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
