ArticleMammalian genome : official journal of the International Mammalian Genome Society2007
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers.
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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
108 citing papers in PubMed, 170 citations in OpenAlex.
- Disrupted Vestibular Nuclei Neuron Development in a Chick Model for Congenital Vestibular Disorders.Developmental neurobiology · 2026Article
- Mutation of CHD7 impairs the output of neuroepithelium transition that is reversed by the inhibition of EZH2.Molecular psychiatry · 2025Article
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- A novel cardiomyopathy phenotype linked to a CHD7 missense variant.Scientific reports · 2025Article
- Development of the semicircular canals and otolithic organs of the vertebrate inner ear.Current topics in developmental biology · 2025Review
- Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.PLoS biology · 2024Article
- ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.Brain : a journal of neurology · 2024Article
- Zebrafish Congenital Heart Disease Models: Opportunities and Challenges.International journal of molecular sciences · 2024Review
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.Human genetics · 2023Article
- CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.Cardiovascular research · 2023Article
- The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.Life science alliance · 2023Article
- Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.Journal of anatomy · 2023Article
- Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.BMC endocrine disorders · 2023Article
- ATM-dependent phosphorylation of CHD7 regulates morphogenesis-coupled DSB stress response in fetal radiation exposure.Molecular biology of the cell · 2023Article
- Review
- Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.Experimental eye research · 2023Article
- Case report: Functional characterization of a novelFrontiers in genetics · 2023Article
- Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.Hearing research · 2022Article
48 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
CHD7 is a novel chromodomain gene mutated in 60%-80% of humans with CHARGE syndrome, a multiple congenital anomaly condition characterized by ocular coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and characteristic ear abnormalities including deafness. Phenotypic features of CHARGE are highly variable and incompletely penetrant. To explore developmental roles of CHD7, we generated mice carrying the Chd7(Gt) allele from a Chd7-deficient, gene-trapped lacZ reporter ES cell line. RT-PCR of embryo RNA demonstrated significantly reduced levels of wild-type transcript in Chd7(Gt/Gt) embryos. Chd7(Gt/Gt) embryos survive only up to embryonic day 10.5 (E10.5). Chd7(Gt/+) male and female mice are viable, small, and exhibit variable degrees of head-bobbing and circling, consistent with vestibular dysfunction. Paint-filling of E16.5 heterozygous inner ears revealed defects of the semicircular canals. The pattern of beta-galactosidase activity in Chd7(Gt/+) embryos mimics Chd7 mRNA expression in wild-type embryos, confirming the fidelity of the lacZ reporter. We observed tissue-specific beta-galactosidase in the E12.5 and E14.5 Chd7(Gt/+) brain, pituitary, ear, heart, and craniofacial structures, indicating survival of Chd7(Gt/+) cells in CHARGE-relevant organs. These studies demonstrate the utility of Chd7(Gt) as a reporter-tagged loss-of-function allele for future studies exploring developmental mechanisms of Chd7 deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.