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We observed a dilute (gray) coat color phenotype in progenies of two C57BL\/6 mice. This phenotype is inherited in an autosomal recessive mode. To uncover the molecular mechanism underlying this naturally occurring phenotypic variation, we performed whole\u2010genome sequencing (25\u00d7) on 10 offspring of the two founder mice. The whole\u2010genome DNA sequencing and additional RNA\u2010Seq data reveal that\n                    <jats:italic>Myo5a<\/jats:italic>\n                    is the gene responsible for the coat color dilution in C57BL\/6 mice, and novel mutations in the\n                    <jats:italic>Myo5a<\/jats:italic>\n                    gene are likely causal. We further performed reverse transcription\u2010quantitative PCR, and showed increased expression of truncated\n                    <jats:italic>Myo5a<\/jats:italic>\n                    transcripts encoding dysfunctional proteins and decreased expression of\n                    <jats:italic>Myo5a<\/jats:italic>\n                    full\u2010length transcripts encoding functional proteins in mutant individuals. The decrease in full\u2010length messenger RNA abundance was accompanied by reduced Myo5a protein level and deficient melanosome transport, a potential mechanistic link between the\n                    <jats:italic>Myo5a<\/jats:italic>\n                    mutations and the dilute color phenotype. This study not only advances our understanding of the molecular mechanisms of pigmentation in mice, but also provides a typical case of deciphering the molecular basis of phenotypic variation in mice by genomic analyses and subsequent functional work.\n                  <\/jats:p>","DOI":"10.1096\/fj.201903141rr","type":"journal-article","created":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T07:45:51Z","timestamp":1615707951000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel mutations in the\n                    <i>Myo5a<\/i>\n                    gene cause a dilute coat color phenotype in mice"],"prefix":"10.1096","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0468-3526","authenticated-orcid":false,"given":"Hui","family":"Zhang","sequence":"first","affiliation":[{"name":"College of Animal Science South China Agricultural University Guangzhou 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