Primary Identifier | MGI:2147134 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 225055 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin-protein transferase activity. Involved in sensory perception of sound. Predicted to be located in cytoplasm; nucleolus; and nucleoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and respiratory system. Used to study otitis media. Human ortholog(s) of this gene implicated in breast carcinoma and lung non-small cell carcinoma. Orthologous to human FBXO11 (F-box protein 11). PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cleft palate, facial clefting, and perinatal lethality. Mice homozygous for a knock-out allele show neonatal lethality, thick epidermis, decreased hair follicle number, absent keratohyalin granules, and increased epidermal Snail protein levels. [provided by MGI curators] |