ArticleMammalian genome : official journal of the International Mammalian Genome Society2010
Melody, an ENU mutation in Caspase 3, alters the catalytic cysteine residue and causes sensorineural hearing loss in mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Apoptotic cell death in disease-Current understanding of the NCCD 2023.Cell death and differentiation · 2023Review
- Making the head: Caspases in life and death.Frontiers in cell and developmental biology · 2022Review
- Genetic characterization of two gain-of-function alleles of the effector caspase DrICE in Drosophila.Cell death and differentiation · 2016Article
- Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.BMC medical genetics · 2014Review
- Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Characterization of Highper, an ENU-induced mouse mutant with abnormal psychostimulant and stress responses.Psychopharmacology · 2013Article
- Forward genetic approaches to understanding complex behaviors.Current topics in behavioral neurosciences · 2012Review
- Inner ear dysfunction in caspase-3 deficient mice.BMC neuroscience · 2011Article
- Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse.Genetics · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Progeny from the Harwell N-ethyl-N-nitrosourea (ENU) recessive mutagenesis screen were assessed for auditory defects. A pedigree was identified with multiple progeny lacking response to a clickbox test. Auditory brainstem response (ABR) analysis showed that homozygous mutant mice were profoundly deaf and the line was named melody. We subsequently mapped this mutation to a 6-Mb region on chromosome 8 and identified a point mutation in melody that results in a C163S substitution in the catalytic site of Caspase 3, a cysteine protease involved in apoptosis. Melody fails to complement a null Caspase-3 mutant. Scanning electron microscopy (SEM) has revealed disorganised sensory hair cells and hair cell loss. Histological analysis of melody has shown degeneration of spiral ganglion cells in homozygote mice, with a gradient of severity from apical to basal turns. Melody heterozygotes also show evidence of loss of spiral ganglion neurons, suggesting that the C163S mutation may show dominant negative effects by binding and sequestering proteins at the active site. The melody line provides a new model for studying the role of Caspase 3 in deafness and a number of other pathways and systems.
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Registered trials
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