The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon. 2003

Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK.

The semi-dominantly inherited mouse mutation pardon (Pdo) was isolated due to the lack of a Preyer reflex (ear flick) in response to sound from a large-scale N -ethyl- N -nitrosourea (ENU) mutagenesis programme. Dissection of the middle ear revealed malformations in all three ossicles, rendering the ossicular chain incomplete. Hair cell counts in the apical turn of the organ of Corti revealed a significant 22.7% increase in the number of outer hair cells. Raised compound action potential thresholds in Pdo/+ mutants suggested a combined sensorineural/conductive hearing loss. We show that a missense mutation in the homeobox gene Emx2 is responsible for these defects, identifying a new function for this gene in the development of specific structures in the ear.

UI MeSH Term Description Entries
D008297 Male Males
D008807 Mice, Inbred BALB C An inbred strain of mouse that is widely used in IMMUNOLOGY studies and cancer research. BALB C Mice, Inbred,BALB C Mouse, Inbred,Inbred BALB C Mice,Inbred BALB C Mouse,Mice, BALB C,Mouse, BALB C,Mouse, Inbred BALB C,BALB C Mice,BALB C Mouse
D008809 Mice, Inbred C3H An inbred strain of mouse that is used as a general purpose strain in a wide variety of RESEARCH areas including CANCER; INFECTIOUS DISEASES; sensorineural, and cardiovascular biology research. Mice, C3H,Mouse, C3H,Mouse, Inbred C3H,C3H Mice,C3H Mice, Inbred,C3H Mouse,C3H Mouse, Inbred,Inbred C3H Mice,Inbred C3H Mouse
D008817 Mice, Mutant Strains Mice bearing mutant genes which are phenotypically expressed in the animals. Mouse, Mutant Strain,Mutant Mouse Strain,Mutant Strain of Mouse,Mutant Strains of Mice,Mice Mutant Strain,Mice Mutant Strains,Mouse Mutant Strain,Mouse Mutant Strains,Mouse Strain, Mutant,Mouse Strains, Mutant,Mutant Mouse Strains,Mutant Strain Mouse,Mutant Strains Mice,Strain Mouse, Mutant,Strain, Mutant Mouse,Strains Mice, Mutant,Strains, Mutant Mouse
D008855 Microscopy, Electron, Scanning Microscopy in which the object is examined directly by an electron beam scanning the specimen point-by-point. The image is constructed by detecting the products of specimen interactions that are projected above the plane of the sample, such as backscattered electrons. Although SCANNING TRANSMISSION ELECTRON MICROSCOPY also scans the specimen point by point with the electron beam, the image is constructed by detecting the electrons, or their interaction products that are transmitted through the sample plane, so that is a form of TRANSMISSION ELECTRON MICROSCOPY. Scanning Electron Microscopy,Electron Scanning Microscopy,Electron Microscopies, Scanning,Electron Microscopy, Scanning,Electron Scanning Microscopies,Microscopies, Electron Scanning,Microscopies, Scanning Electron,Microscopy, Electron Scanning,Microscopy, Scanning Electron,Scanning Electron Microscopies,Scanning Microscopies, Electron,Scanning Microscopy, Electron
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D003051 Cochlea The part of the inner ear (LABYRINTH) that is concerned with hearing. It forms the anterior part of the labyrinth, as a snail-like structure that is situated almost horizontally anterior to the VESTIBULAR LABYRINTH. Cochleas
D004429 Ear Ossicles A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear. Auditory Ossicles,Auditory Ossicle,Ear Ossicle,Ossicle, Auditory,Ossicle, Ear,Ossicles, Auditory,Ossicles, Ear
D004432 Ear, Middle The space and structures directly internal to the TYMPANIC MEMBRANE and external to the inner ear (LABYRINTH). Its major components include the AUDITORY OSSICLES and the EUSTACHIAN TUBE that connects the cavity of middle ear (tympanic cavity) to the upper part of the throat. Tympanic Cavity,Tympanum,Middle Ear,Cavities, Tympanic,Cavity, Tympanic,Ears, Middle,Middle Ears,Tympanic Cavities,Tympanums
D005260 Female Females

Related Publications

Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
April 2010, Developmental biology,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
February 1998, Development (Cambridge, England),
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
October 1999, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
December 2001, TheScientificWorldJournal,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
January 2005, The Laryngoscope,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
January 1983, Acta oto-laryngologica,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
April 2024, Development (Cambridge, England),
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
May 2024, Development (Cambridge, England),
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
April 2010, Human molecular genetics,
Charlotte R Rhodes, and Nicholas Parkinson, and Hsun Tsai, and Debra Brooker, and Siobhan Mansell, and Nigel Spurr, and A Jackie Hunter, and Karen P Steel, and Steve D M Brown
April 2002, Experimental animals,
Copied contents to your clipboard!