Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources

Brain Research
Lisan L ParkerJian Zuo

Abstract

Multiple mouse embryonic stem (ES) cell banks expand the capability to characterize functions of genes implicated in human disease and to develop mouse models for the further understanding of disease pathology. Genetic diseases that result in hearing loss can provide insight into causative molecular mechanisms for deafness. We utilized BayGenomics, the public mouse ES cell bank, to identify gene-trapped ES cell lines associated with hearing loss. We identified two gene-trapped ES cell lines specific for the non-muscle myosin heavy chain class IIA or myosin heavy chain IX (Myh9). Inherited mutations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment DFNA17 as well as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some patients deafness. Mutant Myh9 mice were derived from one of these ES cell lines that underwent germline transmission for in-depth otological examination. No homozygous mice however were identified at birth, consistent with recently published data describing the embryonic lethality of homozygous mutations in Myh9. We provide evidence that adult heterozygous Myh9 mouse inner ears contain half wild-type levels of Myh9 mRNA. Hearing loss howeve...Continue Reading

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Citations

Oct 5, 2007·Neuromolecular Medicine·Anand N MhatreAnil K Lalwani
Jul 6, 2010·Current Opinion in Hematology·Shinji Kunishima, Hidehiko Saito
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Sep 8, 2019·Hearing Research·Krishna BommakantiKonstantina M Stankovic

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