ArticlePloS one2016
Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 16 citations in OpenAlex.
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- Fgf, Hh, and pax2a differentially regulate expression of pax5 and pou3f3b in vestibular and auditory maculae in the zebrafish otic vesicle.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Identification of Novel Lung Cancer Driver Genes Connecting Different Omics Levels With a Heat Diffusion Algorithm.Frontiers in cell and developmental biology · 2022Article
- Limb Mesoderm and Head Ectomesenchyme Both Express a Core Transcriptional Program During Chondrocyte Differentiation.Frontiers in cell and developmental biology · 2022Article
- Comparative assessment of Fgf's diverse roles in inner ear development: A zebrafish perspective.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Research progress of the transcription factor Brn4 (Review).Molecular medicine reports · 2021Article
- lncRNA PANTR1 Upregulates BCL2A1 Expression to Promote Tumorigenesis and Warburg Effect of Hepatocellular Carcinoma through Restraining miR-587.Journal of immunology research · 2021Article
- Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Article
- Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.Journal of the American Society of Nephrology : JASN · 2019Article
- Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1Journal of biomedical science · 2017Article
- Article
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Authors and funding
25 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically recessive mutant line HST011 was established and further analyzed. The causative mutation was detected in the POU domain, class 3 transcription factor 3 (Pou3f3) gene, which leads to the amino acid exchange Pou3f3L423P thereby affecting the conserved homeobox domain of the protein. Pou3f3 homozygous knockout mice are published and show perinatal death. Line Pou3f3L423P is a viable mouse model harboring a homozygous Pou3f3 mutation. Standardized, systemic phenotypic analysis of homozygous mutants was carried out in the German Mouse Clinic. Main phenotypic changes were low body weight and a state of low energy stores, kidney dysfunction and secondary effects thereof including low bone mineralization, multiple behavioral and neurological defects including locomotor, vestibular, auditory and nociceptive impairments, as well as multiple subtle changes in immunological parameters. Genome-wide transcriptome profiling analysis of kidney and brain of Pou3f3L423P homozygous mutants identified significantly regulated genes as compared to wild-type controls.
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