ArticleGenetics2002
An allelic series of mutations in the kit ligand gene of mice. I. Identification of point mutations in seven ethylnitrosourea-induced Kitl(Steel) alleles.
Article in Genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 27 citations in OpenAlex.
- Phenotypic impact on coat color and uterine development in mice carrying a missense mutation associated with bovine White Heifer Disease.The Journal of veterinary medical science · 2026Article
- Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.Human genetics · 2025Article
- Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.BMC medical genomics · 2021Article
- Disruption of c-Kit Signaling in Kit(W-sh/W-sh) Growing Mice Increases Bone Turnover.Scientific reports · 2016Article
- Manipulating the Mouse Genome Using Recombineering.Advancements in genetic engineering · 2013Article
- Loss of the transmembrane but not the soluble kit ligand isoform increases testicular germ cell tumor susceptibility in mice.Cancer research · 2008Article
- Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor.Mammalian genome : official journal of the International Mammalian Genome Society · 2004Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
An allelic series of mutations is an extremely valuable genetic resource for understanding gene function. Here we describe eight mutant alleles at the Steel (Sl) locus of mice that were induced with N-ethyl-N-nitrosourea (ENU). The product of the Sl locus is Kit ligand (or Kitl; also known as mast cell growth factor, stem cell factor, and Steel factor), which is a member of the helical cytokine superfamily and is the ligand for the Kit receptor tyrosine kinase. Seven of the eight ENU-induced Kitl(Sl) alleles, of which five cause missense mutations, one causes a nonsense mutation and exon skipping, and one affects a splice site, were found to contain point mutations in Kitl. Interestingly, each of the five missense mutations affects residues that are within, or very near, conserved alpha-helical domains of Kitl. These ENU-induced mutants should provide important information on structural requirements for function of Kitl and other helical cytokines.
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