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Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

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Kevin Legan, P. & Goodyear, Richard J. & Morín, Matías & Mencia, Angeles & Pollard, Hilary & Olavarrieta, Leticia & Korchagina, Julia & Modamio Hoybjor, Silvia & Mayo, Fernando & Moreno, Felipe & Moreno Pelayo, Miguel Angel & Richardson, Guy P. (2014 ) .Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

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Kevin Legan, P. & Goodyear, Richard J. & Morín, Matías & Mencia, Angeles & Pollard, Hilary & Olavarrieta, Leticia & Korchagina, Julia & Modamio Hoybjor, Silvia & Mayo, Fernando & Moreno, Felipe & Moreno Pelayo, Miguel Angel & Richardson, Guy P.. 2014 .Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

https://hdl.handle.net/20.500.12080/39721
dc.contributor.author Kevin Legan, P.
dc.contributor.author Goodyear, Richard J.
dc.contributor.author Morín, Matías
dc.contributor.author Mencia, Angeles
dc.contributor.author Pollard, Hilary
dc.contributor.author Olavarrieta, Leticia
dc.contributor.author Korchagina, Julia
dc.contributor.author Modamio Hoybjor, Silvia
dc.contributor.author Mayo, Fernando
dc.contributor.author Moreno, Felipe
dc.contributor.author Moreno Pelayo, Miguel Angel
dc.contributor.author Richardson, Guy P.
dc.date.accessioned 2024-02-12T14:24:48Z
dc.date.available 2024-02-12T14:24:48Z
dc.date.created 2014
dc.date.issued 2014
dc.identifier.uri https://hdl.handle.net/20.500.12080/39721
dc.description.abstract Tecta is a modular, non-collagenous protein of the tectorial membrane (TM), an extracellular matrix of the coch lea essential for normal hearing. Missensemutations in Tecta cause dominant forms of non-syndromic deafness and a genotype¿phenotype correlation has been reported in humans, with mutations in different Tecta domains causing mid- or high-frequency hearing impairments that are either stable or progressive. Three mutant mice were created as models for human Tecta mutations; the TectaL1820F,G1824D/1 mouse for zona pellucida (ZP) domain mutations causing stable mid-frequency hearing loss in a Belgian family, the TectaC1837G/1 mouse for a ZP-domain mutation underlying progressive mid-frequency hearing loss in a Spanish family and the TectaC1619S/1 mouse for a zonadhesin-like (ZA) domain mutation responsible for progressive, high-frequency hearing loss in a French family. Mutations in the ZP and ZA domains generate distinctly different changes in the structure of the TM. Auditory brainstem response thresholds in the 8¿40 kHz range are elevated by 30¿40 dB in the ZP-domain mutants, whilst those in the ZA-domain mutant are elevated by 20¿30 dB. The phe notypes are stable and no evidence has been found for a progressive deterioration in TM structure or auditory function. Despite elevated auditory thresholds, the Tecta mutant mice all exhibit an enhanced tendency to have audiogenic seizures in response to white noise stimuli at low sound pressure levels (¿84 dB SPL), revealing a previously unrecognised consequence of Tecta mutations. These results, together with those from previous studies, establish an allelic series for Tecta unequivocally demonstrating an association between genotype and phenotype. es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


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