Primary Identifier | MGI:1915472 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 227613 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity and double-stranded RNA binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in flagellated sperm motility. Located in myelin sheath. Is active in sperm flagellum. Is expressed in brain ependyma; epithelial layer of oviduct; germ cell of testis; nasal epithelium; and respiratory system epithelium. Human ortholog(s) of this gene implicated in Leber congenital amaurosis with early-onset deafness. Orthologous to human TUBB4B (tubulin beta 4B class IVb). PHENOTYPE: Mice homozygous for a null allele display partial postnatal lethality and severe truncation of cilia on multi-ciliated cells. [provided by MGI curators] |