Primary Identifier | MGI:1337104 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 14051 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within middle ear morphogenesis and sensory perception of sound. Predicted to be located in cytoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; sensory organ; and urinary system. Used to study otitis media. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 10; congestive heart failure; dilated cardiomyopathy; dilated cardiomyopathy 1J; and sensorineural hearing loss. Orthologous to human EYA4 (EYA transcriptional coactivator and phosphatase 4). PHENOTYPE: Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion. [provided by MGI curators] |