ArticlePLoS genetics2013
Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.PLoS genetics · 2015Pooled it
- PITX2 dosage-dependent changes in pacemaker cell state underlie sinus node dysfunction and atrial arrhythmias.Nature communications · 2025Article
- Exome sequencing identifies variants in infants with sacral agenesis.Birth defects research · 2022Article
- KRAB-zinc finger protein gene expansion in response to active retrotransposons in the murine lineage.eLife · 2020Article
- A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.Frontiers in pediatrics · 2020Article
- Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.Human molecular genetics · 2019Article
- Transcription factor Ptf1a in development, diseases and reprogramming.Cellular and molecular life sciences : CMLS · 2019Review
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Pediatric nephrology (Berlin, Germany) · 2016Review
- Article
- Nxf1 natural variant E610G is a semi-dominant suppressor of IAP-induced RNA processing defects.PLoS genetics · 2015Article
- Retrotransposon activates ectopic Ptf1 expression: a short tail.PLoS genetics · 2013Article
- A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.PLoS genetics · 2013Article
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Danforth's short tail (Sd) is a semidominant mutation on mouse chromosome 2, characterized by spinal defects, urogenital defects, and anorectal malformations. However, the gene responsible for the Sd phenotype was unknown. In this study, we identified the molecular basis of the Sd mutation. By positional cloning, we identified the insertion of an early transposon in the Sd candidate locus approximately 12-kb upstream of Ptf1a. We found that insertion of the transposon caused overexpression of three neighboring genes, Gm13344, Gm13336, and Ptf1a, in Sd mutant embryos and that the Sd phenotype was not caused by disruption of an as-yet-unknown gene in the candidate locus. Using multiple knockout and knock-in mouse models, we demonstrated that misexpression of Ptf1a, but not of Gm13344 or Gm13336, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the Sd phenotype. The ectopic expression of Ptf1a in the caudal embryo resulted in attenuated expression of Cdx2 and its downstream target genes T, Wnt3a, and Cyp26a1; we conclude that this is the molecular basis of the Sd phenotype. Analysis of Sd mutant mice will provide insight into the development of the spinal column, anus, and kidney.
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