Evidence map›Paper›PMID 24200520›Full record

ArticleExperimental eye research2014

Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.

Jungyeon Won, Jeremy R Charette, Vivek M Philip, Timothy M Stearns, Weidong Zhang, Jürgen K Naggert, Mark P Krebs, Patsy M Nishina

Open access · greenAbstract readComparative Study
In one paragraph

Article in Experimental eye research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

Jungyeon WonThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Jeremy R CharetteThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Vivek M PhilipThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Timothy M StearnsThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Weidong ZhangThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Jürgen K NaggertThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Mark P KrebsThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Patsy M NishinaThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. Electronic address: patsy.nishina@jax.org.
Jackson Laboratory · US

Funding

RETINAL DISEASE: MOLECULAR BASIS AND PATHOPHYSIOLOGYR01EY011996 · NEI · JACKSON LABORATORY · PI Patsy M Nishina · 1998 to 2026
$12.4M
NEI NIH HHS EY011996NEI NIH HHS R01 EY011996
6 · The paper itself

Abstract

The identification of genes that modify pathological ocular phenotypes in mouse models may improve our understanding of disease mechanisms and lead to new treatment strategies. Here, we identify modifier loci affecting photoreceptor cell loss in homozygous Mfrp(rd6) mice, which exhibit a slowly progressive photoreceptor degeneration. A cohort of 63 F2 homozygous Mfrp(rd6) mice from a (B6.C3Ga-Mfrp(rd6)/J × CAST/EiJ) F1 intercross exhibited a variable number of cell bodies in the retinal outer nuclear layer at 20 weeks of age. Mice were genotyped with a panel of single nucleotide polymorphism markers, and genotypes were correlated with phenotype by quantitative trait locus (QTL) analysis to map modifier loci. A genome-wide scan revealed a statistically significant, protective candidate locus on CAST/EiJ Chromosome 1 and suggestive modifier loci on Chromosomes 6 and 11. Multiple regression analysis of a three-QTL model indicated that the modifier loci on Chromosomes 1 and 6 together account for 26% of the observed phenotypic variation, while the modifier locus on Chromosome 11 explains only an additional 4%. Our findings indicate that the severity of the Mfrp(rd6) retinal degenerative phenotype in mice depends on the strain genetic background and that a significant modifier locus on CAST/EiJ Chromosome 1 protects against Mfrp(rd6)-associated photoreceptor loss.

Indexed as

Polymorphism, Single NucleotideQuantitative Trait LociAnimalsDisease Models, AnimalDNAEye ProteinsFrizzled-Related ProteinsGenotypeMembrane ProteinsMiceMice, Inbred C57BLPhenotypePolymerase Chain ReactionRetinaRetinal DegenerationDNAEye ProteinsFrizzled-Related ProteinsMembrane ProteinsMfrp protein, mouseeye diseaseMFRPmodifier genesQTL analysisretinal degeneration

Identifiers

PMID24200520
PMCPMC4153418
OpenAlexW1969711639

What OpenQuestion holds

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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.