ArticleBMC genomics2023
Analysis of structural variation among inbred mouse strains.
Article in BMC genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- GenomeMUSter mouse genetic variation service enables multitrait, multipopulation data integration and analysis.Genome research · 2024Pooled it
- Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Pooled it
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- Fetal Cortical Layers and Midline Histological Alterations in the BTBR Mouse Model of Neurodevelopmental Disorders.Biology · 2026Article
- Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Intra-strain genetic heterogeneity in Toxoplasma gondii ME49: Oxford Nanopore long-read sequencing reveals copy number variation in the ROP8-ROP2A locus.BMC genomics · 2025Article
- MoG+3.0: expanded structural variant visualization and integration of genomic data from five newly analyzed mouse strains.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- GliFHV mice: a tool to investigate GLI processing and localization.Development (Cambridge, England) · 2025Article
- A Murine Database of Structural Variants Enables the Genetic Architecture of a Spontaneous Murine Lymphoma to be Characterized.bioRxiv : the preprint server for biology · 2025Article
- Implications of draxin in neurological disorders.Frontiers in cell and developmental biology · 2025Review
- Twenty-first century mouse genetics is again at an inflection point.Lab animal · 2025Review
- Whole genome sequencing of CRISPR/Cas9-engineered NF-κB reporter mice for validation and variant discovery.Scientific data · 2024Article
- Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling.bioRxiv : the preprint server for biology · 2024Article
- Genetic Discovery Enabled by A Large Language Model.bioRxiv : the preprint server for biology · 2023Article
- Neuron Navigator 1 (Nav1) regulates the response to cocaine in mice.Communications biology · 2023Article
- Long-read-based single sperm genome sequencing for chromosome-wide haplotype phasing of both SNPs and SVs.Nucleic acids research · 2023Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
background'Long read' sequencing methods have been used to identify previously uncharacterized structural variants that cause human genetic diseases. Therefore, we investigated whether long read sequencing could facilitate genetic analysis of murine models for human diseases.
resultsThe genomes of six inbred strains (BTBR T + Itpr3tf/J, 129Sv1/J, C57BL/6/J, Balb/c/J, A/J, SJL/J) were analyzed using long read sequencing. Our results revealed that (i) Structural variants are very abundant within the genome of inbred strains (4.8 per gene) and (ii) that we cannot accurately infer whether structural variants are present using conventional short read genomic sequence data, even when nearby SNP alleles are known. The advantage of having a more complete map was demonstrated by analyzing the genomic sequence of BTBR mice. Based upon this analysis, knockin mice were generated and used to characterize a BTBR-unique 8-bp deletion within Draxin that contributes to the BTBR neuroanatomic abnormalities, which resemble human autism spectrum disorder.
conclusionA more complete map of the pattern of genetic variation among inbred strains, which is produced by long read genomic sequencing of the genomes of additional inbred strains, could facilitate genetic discovery when murine models of human diseases are analyzed.
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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.