Document Type
Article
Publication Date
1-1-2022
Publication Title
PLoS One
Keywords
JMG, Animals, Mice, Growth and Development, Horses, Mutation, Nail Diseases, Nails, Nails, Malformed
JAX Source
PLoS One. 2022;17(11):e0277284
Volume
17
Issue
11
First Page
0277284
ISSN
1932-6203
PMID
36374931
DOI
https://doi.org/10.1371/journal.pone.0277284
Abstract
Numerous single gene mutations identified in humans and mice result in nail deformities with many similarities between the species. A spontaneous, autosomal, recessive mutation called witch nails (whnl) is described here where the distal nail matrix and nail bed undergo degenerative changes resulting in formation of an abnormal nail plate causing mice to develop long, curved nails. This mutation arose spontaneously in a colony of MRL/MpJ-Faslpr/J at The Jackson Laboratory. Homozygous mutant mice are recognizable by 8 weeks of age by their long, curved nails. The whnl mutation, mapped on Chromosome 15, is due to a 7-bp insertion identified in the 3' region of exon 9 in the Krt90 gene (formerly Riken cDNA 4732456N10Rik), and is predicted to result in a frameshift that changes serine 476 to arginine and subsequently introduces 36 novel amino acids into the protein before a premature stop codon (p. Ser476ArgfsTer36). By immunohistochemistry the normal KRT90 protein is expressed in the nail matrix and nail bed in control mice where lesions are located in mutant mice. Immunoreactivity toward equine KRT124, the ortholog of mouse KRT90, is restricted to the hoof lamellae (equine hoof wall and lamellae are homologous to the mouse nail plate and nail bed) and the mouse nail bed. Equine laminitis lesions are similar to those observed in this mutant mouse suggesting that the latter may be a useful model for hoof and nail diseases. This first spontaneous mouse mutation affecting the novel Krt90 gene provides new insight into the normal regulation of the molecular pathways of nail development.
Recommended Citation
Sundberg J,
Galantino-Homer H,
Fairfield H,
Ward-Bailey PF,
Harris BS,
Berry ML,
Pratt CH,
Gott N,
Bechtold L,
Kaplan P,
Durbin-Johnson B,
Rocke D,
Rice R.
Witch Nails (Krt90whnl): A spontaneous mouse mutation affecting nail growth and development. PLoS One. 2022;17(11):e0277284
Comments
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