| First Author | Gotoh H | Year | 2012 |
| Journal | Mamm Genome | Volume | 23 |
| Issue | 7-8 | Pages | 399-403 |
| PubMed ID | 22438012 | Mgi Jnum | J:183482 |
| Mgi Id | MGI:5318807 | Doi | 10.1007/s00335-012-9395-1 |
| Citation | Gotoh H, et al. (2012) QTL on mouse chromosomes 1 and 4 causing sperm-head morphological abnormality and male subfertility. Mamm Genome 23(7-8):399-403 |
| abstractText | The B10.M mouse strain represents a model for male subfertility as it produces a significantly low number of offspring. The only known male reproductive phenotype of this strain is its high frequency of sperm-head morphological abnormalities (44.7 +/- 2.4 %). We previously reported that this phenotype was the product of two recessive loci. In this study we mapped the loci causing the high frequency of sperm-head morphological abnormalities in this strain using F2 animals produced by crossing B10.M and C3H mice. Quantitative trait loci (QTL) analysis (n = 178) identified two recessive genes, one on Chromosome (Chr) 1 (LOD score = 30.585) and one on Chr 4 (LOD score = 4.532). Further analysis (n = 854) mapped the locus on Chr 1 between Ercc5 (23.55 cM) and D1Mit528 (25.95 cM) and the locus on Chr 4 between D4Mit148 (69.48 cM) and D4Mit170 (70.47 cM). It was also found that the effects of these two loci were not independent. The major locus on Chr 1 determines the expression of sperm-head abnormalities, while the locus on Chr 4 enhances the frequency of abnormalities only when the genotype of the Chr 1 locus is homozygous for the B10.M allele. The major locus on Chr 1 was named sperm-head morphology 1 (Shm1), while the modifier locus on Chr 4 was named sperm-head morphology 2 (Shm2). |
