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Curly : a new hair defect mutation in the SELH/bc mouse strain Taylor, Lydia Anne


The curly mutation (cur) is an autosomal recessive mutation that arose spontaneously on the inbred strain SELH/Bc. This study included the characterization of the curly phenotype and the mapping of the curly mutation in order to report this mutation, evaluate its importance as an animal model for human genetic disorders and possibly contribute towards understanding the mechanism of mutation in the SELH strain. This mutation is one of the eight single locus, spontaneous mutations that have arisen on the SELH strain indicating that this strain has an elevated mutation rate. This mutant has a waved and ruffled coat, crimped and broken vibrissae, and in later life may develop curled toe nails and hair loss at the eyes, nose, ears and tail tips. The curly mutation was mapped to the distal end of chromosome 11 via PCR amplification of informative SSLP's using 32 homozygous curly F2's from curly SELH stock outcrossed to the normal inbred strain LM/Bc. Based on recombination breakpoints in individual affected F2 genotypes, the region containing the curly mutation was narrowed to between D11Mit14 and D11Mit10, an approximately 6 cM interval. This placed the curly mutation in a region of the genome known to contain several dominant hair defect mutations, epidermal regulatory genes and keratin (the main structural protein of epidermal, nail and hair cells) genes. A second outcross of curly SELH to the AXB-10/Pgn normal inbred strain was undertaken to further refine this region containing the curly mutation and to map curly relative to the keratin genes. Based on recombination breakpoints in individual affected F2s (n = 71) in this cross, the curly mutation was mapped between D11Mit14 and D11Mit360, an approximately 4 cM region. No recombinants were found between the curly mutation and two markers from within candidate keratin genes, KHA1 and Krtl9.

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