Evidence map›Paper›PMID 18202372›Full record

ArticleGenetics2008

An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate.

Keren Bismuth, Susan Skuntz, Jón H Hallsson, Evgenia Pak, Amalia S Dutra, Eiríkur Steingrímsson, Heinz Arnheiter

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

10 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. MITF-the first 25 years.Genes & development · 2019
    Review
  3. Review
  4. Article
  5. PW1 gene/paternally expressed gene 3 (PW1/Peg3) identifies multiple adult stem and progenitor cell populations.Proceedings of the National Academy of Sciences of the United States of America · 2011
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. 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

7 authors at 3 institutions in 2 countries.

Keren BismuthMammalian Development Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3706, USA.
Susan Skuntz
Jón H Hallsson
Evgenia Pak
Amalia S Dutra
Eiríkur Steingrímsson
Heinz Arnheiter
National Institutes of Health · USNational Institute of Neurological Disorders and Stroke · USUniversity of Iceland · IS

Funding

NHGRI/DIR Cytogenetics and Microscopy CoreZICHG200348 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI WINCOVITCH, STEPHEN · 2010 to 2025
$20.3M
Transcription Regulation In Vertebrate Eye DevelopmentZIANS002790 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI ARNHEITER, HEINZ · 2009 to 2012
$3.1M
The Role of Transcription Factor Isoforms in Eye and Neural Crest DevelopmentZIANS003021 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI ARNHEITER, HEINZ · 2009 to 2012
$3.1M
Transcription Regulation In Vertebrate Eye DevelopmentZ01NS002790 · NINDS · NEUROLOGICAL DISORDERS AND STROKE · PI ARNHEITER, HEINZ · 1990 to 2008
$2.1M
The Role of Transcription Factor Isoforms in Eye and Neural Crest DevelopmentZ01NS003021 · NINDS · NEUROLOGICAL DISORDERS AND STROKE · PI ARNHEITER, HEINZ · 2007 to 2008
$1.7M
NHGRI/DIR Cytogenetics and Microscopy CoreZ01HG200348 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2008 to 2008
$868k
Intramural NIH HHS
6 · The paper itself

Abstract

The mouse Mitf gene encodes a transcription factor that is regulated by serine phosphorylation and is critical for the development of melanin-containing pigment cells. To test the role of phosphorylation at a particular serine, S73 in exon 2 of Mitf, we used a standard targeting strategy in mouse embryonic stem cells to change the corresponding codon into one encoding an alanine. By chance, we generated an allele in which 85,222 bp of wild-type Mitf sequence are duplicated and inserted into an otherwise correctly targeted Mitf gene. Depending on the presence or absence of a neomycin resistance cassette, this genomic rearrangement leads to animals with a white coat with or without pigmented spots or a gray coat with obligatory white and black spots. Several independent, genetically stable germline revertants that lacked the duplicated wild-type sequence but retained the targeted codon were then derived. These animals were normally pigmented, indicating that the serine-to-alanine mutation is not deleterious to melanocyte development. The fact that mosaic coat reversions occur in all mice lacking the neo-cassette and that approximately 1% of these transmit a reverted allele to their offspring places this mutation among those with the highest spontaneous reversion rates in mammals.

Indexed as

AllelesAlanineAmino Acid SubstitutionAnimalsDrug ResistanceFemaleFluorescent Antibody TechniqueGene Expression RegulationGene TargetingGerm-Line MutationHomozygoteIn Situ Hybridization, FluorescenceIntronsMaleMiceMicrophthalmia-Associated Transcription FactorAlanineMicrophthalmia-Associated Transcription FactorNeomycinRNA, MessengerSerine

Identifiers

PMID18202372
PMCPMC2206076
OpenAlexW2110608336

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.