ArticleHuman molecular genetics2016
Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- A standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases.Acta neuropathologica communications · 2026Pooled it
- KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS.JCI insight · 2026Article
- A standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases.bioRxiv : the preprint server for biology · 2026Article
- Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasis.bioRxiv : the preprint server for biology · 2026Article
- SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissues.Frontiers in cellular neuroscience · 2026Article
- Gene and Stem Cell-Based Therapies for Retinal Degenerative Diseases: Update, Challenges, and Future Directions.Stem cell reviews and reports · 2025Review
- Identification of p38 MAPK inhibition as a neuroprotective strategy for combinatorial SMA therapy.EMBO molecular medicine · 2025Article
- Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.Molecular genetics & genomic medicine · 2025Review
- Article
- SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA.Human molecular genetics · 2025Article
- Peripheral defects precede neuromuscular pathology in theJournal of neuromuscular diseases · 2024Article
- Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoGene therapy · 2024Article
- Genetically modified mice as a tool for the study of human diseases.Molecular biology reports · 2024Review
- Innovating spinal muscular atrophy models in the therapeutic era.Disease models & mechanisms · 2023Article
- A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.PloS one · 2023Article
- Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience.Skeletal muscle · 2022Article
- Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy.Gene therapy · 2022Article
- Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.Skeletal muscle · 2022Article
- Response of plasma microRNAs to nusinersen treatment in patients with SMA.Annals of clinical and translational neurology · 2022Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) is caused by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene in humans. Modifiers of the SMA symptoms have been identified and genetic background has a substantial effect in the phenotype and survival of the severe mouse model of SMA. Previously, we generated the less severe Smn2B/- mice on a mixed genetic background. To assess the phenotype of Smn deficiency on a pure genetic background, we produced Smn2B/2B congenic mice on either the C57BL/6 (BL6) or FVB strain background and characterized them at the 6th generation by breeding to Smn+/- mice. Smn2B/- mice from these crosses were evaluated for growth, survival, muscle atrophy, motor neuron loss, motor behaviour, and neuromuscular junction pathology. FVB Smn2B/- mice had a shorter life span than BL6 Smn2B/- mice (median of 19 days vs. 25 days). Similarly, all other defects assessed occurred at earlier stages in FVB Smn2B/-mice when compared to BL6 Smn2B/-mice. However, there were no differences in Smn protein levels in the spinal cords of these mice. Interestingly, levels of Plastin 3, a putative modifier of SMA, were significantly induced in spinal cords of BL6 Smn2B/- mice but not of FVB Smn2B/-mice. Our studies demonstrate that the phenotype in Smn2B/-mice is more severe in the FVB background than in the BL6 background, which could potentially be explained by the differential induction of genetic modifiers.
Indexed as
Identifiers
What OpenQuestion holds
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.