Abstract
We describe here a spontaneous, autosomal recessive mutant mouse suffering from skin and hair defects, which arose in the outbred Kunming strain. By haplotype analysis and direct sequencing of PCR products, we show that this mutation is a new allele of the asebia locus with a naturally occurring mutation in the Scd1 gene (a CCC insertion at nucleotide position 835 in exon 5), which codes for stearoyl-CoA desaturase 1. This mutation introduces an extra proline residue at position 279 in the Scd1 protein. The mutant mice, originally designated km/km but now assigned the name Scd1 ab-Xyk (hereafter abbreviated as ab Xyk/ ab Xyk), have a similar gross and histological phenotype to that reported for previously characterized allelic asebia mutations ( Scd1 ab, Scd1 abJ, Scd1 ab2J, and Scd1 tm1Ntam). Histological analysis showed they were also characterized by hypoplasic sebaceous glands and abnormal hair follicles. In a cross between Kunming- ab Xyk/ ab Xyk and ABJ/Le- ab J/ ab Jmice, all the progeny showed the same phenotype, indicating that the two mutations were non-complementing and therefore allelic. Comparisons with the other four allelic mutants indicate that the Scd1 ab-Xyk mutation causes the mildest change in Scd1 function. This new mouse mutant is a good model not only for the study of scarring alopecias in humans, which are characterized by hypoplasic sebaceous glands, but also for studying the structure and function of the Scd1 protein.
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Acknowledgements
This work was supported by the National High Technology “863” Programs of China (Grant No. 2001AA221091 to XYK) and the Distinguished Young Scholars’ Fund of the National Natural Science Foundation (Grant No. 301250281 to XYK). It was also supported in part by grants from the National Institutes of Health (CA34196 and RR173 to JPS) of the USA. We would like to thank Xiaokun Teng for help in the histological analysis. We are grateful to Bin Cui, Heng Xu and Qing-Lian Xie for their technical assistance. We appreciate John P. Sundberg for helping to edit the manuscript
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Communicated by G. Reuter
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Lu, Y., Bu, L., Zhou, S. et al. Scd1 ab-Xyk: a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse. Mol Genet Genomics 272, 129–137 (2004). https://doi.org/10.1007/s00438-004-1043-3
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DOI: https://doi.org/10.1007/s00438-004-1043-3