ArticleBMC research notes2013
The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g.
Article in BMC research notes, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion inFrontiers in medicine · 2025Article
- A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.Open biology · 2024Article
- FAM83G Is a Novel Inducer of Apoptosis.Molecules (Basel, Switzerland) · 2020Article
- AGenes · 2020Article
- PathogenicWellcome open research · 2019Article
- The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.Biochemical Society transactions · 2018Review
- PAWS1 controls Wnt signalling through association with casein kinase 1α.EMBO reports · 2018Article
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.The Journal of investigative dermatology · 2018Article
- Expression of human skin-specific genes defined by transcriptomics and antibody-based profiling.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2015Article
- A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).PLoS genetics · 2014Article
- The juvenile alopecia mutation (jal) maps to mouse Chromosome 2, and is an allele of GATA binding protein 3 (Gata3).BMC genetics · 2013Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMice homozygous for the spontaneous wooly mutation (abbreviated wly) are recognized as early as 3-4 weeks of age by the rough or matted appearance of their coats. Previous genetic analysis has placed wly in a 5.9 Mb interval on Chromosome 11 that contains over 200 known genes. Assignment of wly to one of these genes is needed in order to provide probes that would ultimately facilitate a complete molecular analysis of that gene's role in the normal and disrupted development of the mammalian integument.
resultsHere, a large intraspecific backcross family was used to genetically map wly to a smaller (0.8 Mb) span on mouse Chromosome 11 that includes fewer than 20 genes. DNA sequencing of the coding regions in two of these candidates known to be expressed in skin has revealed a 955 bp, wly-specific deletion. This deletion, which lies within the coordinates of both Slc5a10 [for solute carrier family 5 (sodium/glucose cotransporter), member 10] and Fam83g (for family with sequence similarity 83, member G), alters the splicing of mutant Fam83g transcripts only, and is predicted to result in a severely truncated (probably non-functional) protein product.
conclusionWe suggest that this mutation in Fam83g is the likely basis of the mouse wooly phenotype.
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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.