ArticleGenomics2005
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.
Article in Genomics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis.Journal of the Association for Research in Otolaryngology : JARO · 2014Pooled it
- Adhesion G protein-coupled receptors.Pharmacological reviews · 2026Review
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Communications biology · 2023Article
- Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Putative Causal Variant onFrontiers in neurology · 2021Article
- Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains.Scientific reports · 2017Article
- Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations.Genome biology · 2016Article
- Audiogenic reflex seizures in cats.Journal of feline medicine and surgery · 2016Article
- Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.Human molecular genetics · 2015Article
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.The Journal of biological chemistry · 2014Article
- The very large G protein coupled receptor (Vlgr1) in hair cells.Journal of molecular neuroscience : MN · 2013Review
- Genetics of hearing and deafness.Anatomical record (Hoboken, N.J. : 2007) · 2012Review
- Alleles that modulate late life hearing in genetically heterogeneous mice.Neurobiology of aging · 2012Article
- Current understanding of usher syndrome type II.Frontiers in bioscience (Landmark edition) · 2012Article
- Polygenic inheritance of sensorineural hearing loss (Snhl2, -3, and -4) and organ of Corti patterning defect in the ALR/LtJ mouse strain.Hearing research · 2011Article
- Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.Nature communications · 2011Article
- The sound of silence: mouse models for hearing loss.Genetics research international · 2011Article
- Modifiers of hearing impairment in humans and mice.Current genomics · 2010Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C). Here we report that the Mass1frings mutation is responsible for the early onset hearing impairment of BUB/BnJ mice. We found highly significant linkage of Mass1 with ABR threshold variation among mice from two backcrosses involving BUB/BnJ mice with mice of strains CAST/EiJ and MOLD/RkJ. We also show an additive effect of the Cdh23 locus in modulating the progression of hearing loss in backcross mice. Together, these two loci account for more than 70% of the total ABR threshold variation among the backcross mice at all ages. The modifying effect of the strain-specific Cdh23ahl variant may account for the hearing and audiogenic seizure differences observed between Frings and BUB/BnJ mice, which share the Mass1frings mutation. During postnatal cochlear development in BUB/BnJ mice, stereocilia bundles develop abnormally and remain immature and splayed into adulthood, corresponding with the early onset hearing impairment associated with Mass1frings. Progressive base-apex hair cell degeneration occurs at older ages, corresponding with the age-related hearing loss associated with Cdh23ahl. The molecular basis and pathophysiology of hearing loss suggest BUB/BnJ and Frings mice as models to study cellular and molecular mechanisms underlying USH2C auditory pathology.
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