Scd1 ab-Xyk: A New Asebic Allele Characterized by a CCC Trinucleotide Insertion in Exon 5 of the Stearoyl-CoA Desaturase 1 Gene in Mouse

Researchers identified a new autosomal recessive mutant mouse, named Scd1 ab-Xyk, with skin and hair defects due to a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 (Scd1) gene. This mutation, which adds an extra proline residue at position 279 in the Scd1 protein, resulted in hypoplasic sebaceous glands and abnormal hair follicles. The phenotype was similar to other known asebia mutations, and crossbreeding experiments confirmed that the mutations were allelic. The Scd1 ab-Xyk mutation caused the mildest functional change among the allelic variants, making this mouse model valuable for studying scarring alopecias in humans and the structure and function of the Scd1 protein.