ArticleGenetics2003
A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation.
Article in Genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 53 citations in OpenAlex.
- A comparative proteomic-based study identifies essential factors involved in hair follicle growth in inner Mongolia cashmere goats.BMC veterinary research · 2025Article
- Article
- Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.Cells · 2023Article
- Characterization of single nucleotide polymorphisms for a forward genetics approach using genetic crosses in C57BL/6 and BALB/c substrains of mice.Experimental animals · 2022Article
- An updated classification of hair follicle morphogenesis.Experimental dermatology · 2019Review
- Integrated miRNA-mRNA analysis reveals regulatory pathways underlying the curly fleece trait in Chinese tan sheep.BMC genomics · 2018Article
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.Scientific reports · 2018Article
- Genetically modified laboratory mice with sebaceous glands abnormalities.Cellular and molecular life sciences : CMLS · 2016Review
- Transcriptome profile at different physiological stages reveals potential mode for curly fleece in Chinese tan sheep.PloS one · 2013Article
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.Scientific reports · 2013Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
- LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling.The EMBO journal · 2011Article
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
- Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.American journal of human genetics · 2010Article
- A novel hairless mouse model on an atopic dermatitis-prone genetic background generated by receptor-mediated transgenesis.Transgenic research · 2008Article
- Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13.Mammalian genome : official journal of the International Mammalian Genome Society · 2006Article
- Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program.Mammalian genome : official journal of the International Mammalian Genome Society · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A new mutation has arisen in a colony of mice transgenic for human alpha-galactosidase. The mutation is independent of the transgenic insertion, autosomal dominant, and morphologically very similar to the classical wavy coat mutation, caracul (Ca), on chromosome 15. Therefore, we designated this locus the caracul Rinshoken (Ca(Rin)). Applying a positional cloning approach, we identified the mK6irs1/Krt2-6g gene as a strong candidate for Ca(Rin) because among five Ca alleles examined mutations always occurred in the highly conserved positions of the alpha-helical rod domain (1A and 2B subdomain) of this putative gene product. The most striking finding is that four independently discovered alleles, the three preexistent alleles Ca(J), Ca(9J), Ca(10J), and our allele Ca(Rin), all share one identical amino acid deletion (N 140 del) and the fifth, Ca(medJ), has an amino acid substitution (A 431 D). These findings indicate that a mutation hotspot exists in the Ca locus. Additionally, we describe a Ca mutant allele induced by ENU mutagenesis, which also possesses an amino acid substitution (L 424 W) in the mK6irs1/Krt2-6g gene. The identification of the Ca candidate gene enables us to further define the nature of the genetic pathway required for hair formation and provides an important new candidate that may be implicated in human hair and skin diseases.
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.