Evidence map›Paper›PMID 21926299›Full record

ArticleGenetics2011

Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice.

Samantha L Deitz, Randall J Roper

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.5field-weighted citation impact, top 11% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Sex specific emergence of trisomicbioRxiv : the preprint server for biology · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. Behavioral Phenotyping for Down Syndrome in Mice.Current protocols in mouse biology · 2020
    Article
  10. Influence of allelic differences in Down syndrome.Progress in brain research · 2020
    Review
  11. Article
  12. Article
  13. Review
  14. Dissecting Alzheimer disease in Down syndrome using mouse models.Frontiers in behavioral neuroscience · 2015
    Review
  15. Article
  16. Article
  17. Commonality in Down and fetal alcohol syndromes.Birth defects research. Part A, Clinical and molecular teratology · 2013
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Samantha L DeitzDepartment of Biology and Indiana University Center for Regenerative Biology and Medicine, Indiana University-Purdue University Indianapolis, Indiana 46202, USA.
Randall J Roper
Indiana University – Purdue University Indianapolis · US

Funding

Genetic basis of the neural crest deficit in Down syndrome miceR15DE021034 · NIDCR · INDIANA UNIVERSITY INDIANAPOLIS · PI ROPER, RANDALL J · 2010 to 2010
$380k
NIDCR NIH HHS DE021034NIDCR NIH HHS R15 DE021034
6 · The paper itself

Abstract

Individuals with full or partial Trisomy 21 (Ts21) present with clinical features collectively referred to as Down syndrome (DS), although DS phenotypes vary in incidence and severity between individuals. Differing genetic and phenotypic content in individuals with DS as well as mouse models of DS facilitate the understanding of the correlation between specific genes and phenotypes associated with Ts21. The Ts1Rhr mouse model is trisomic for 33 genes (the "Down syndrome critical region" or DSCR) hypothesized to be responsible for many clinical DS features, including craniofacial dysmorphology with a small mandible. Experiments with Ts1Rhr mice showed that the DSCR was not sufficient to cause all DS phenotypes by identifying uncharacteristic craniofacial abnormalities not found in individuals with DS or other DS mouse models. We hypothesized that the origins of the larger, dysmorphic mandible observed in adult Ts1Rhr mice develop from larger embryonic craniofacial precursors. Because of phenotypic variability seen in subsequent studies with Ts1Rhr mice, we also hypothesized that genetic background differences would alter Ts1Rhr developmental phenotypes. Using Ts1Rhr offspring from two genetic backgrounds, we found differences in mandibular precursor volume as well as total embryonic volume and postnatal body size of Ts1Rhr and nontrisomic littermates. Additionally, we observed increased relative expression of Dyrk1a and differential expression of Ets2 on the basis of the genetic background in the Ts1Rhr mandibular precursor. Our results suggest that trisomic gene content and allelic differences in trisomic or nontrisomic genes influence variability in gene expression and developmental phenotypes associated with DS.

Indexed as

AllelesAnimalsBase SequenceDisease Models, AnimalDNA PrimersDown SyndromeMiceMice, Inbred C57BLPhenotypePolymerase Chain ReactionDNA Primers

Identifiers

PMID21926299
PMCPMC3241431
OpenAlexW2169631945

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.