Journal
GENETICS
Volume 178, Issue 1, Pages 259-272Publisher
GENETICS SOCIETY AMERICA
DOI: 10.1534/genetics.107.081893
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Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [Z01HG200348, ZICHG200348] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [ZIANS002790, Z01NS003021, Z01NS002790, ZIANS003021] Funding Source: NIH RePORTER
- Intramural NIH HHS Funding Source: Medline
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The mouse Mitf gene encodes a transcription factor that is regulated by serine phosphorylation and is critical for the development of melanin-containing pigment cells. To test the role of phosphorylation at a particular serine, S73 in exon 2 of Mitf we used a standard targeting strategy in mouse embryonic stein cells to change the corresponding codon into one encoding an alanine. By chance, we generated an allele in which 85,222 bp of wild-type Mitt sequence are duplicated and inserted into an otherwise correctly targeted Mitf gene. Depending on the presence or absence of a neomycin resistance cassette, this genomic rearrangement leads to animals with a white coat with Or without pigmented spots or a gray coat with obligatory white and black spots. Several independent, genetically stable germline revertants that lacked the duplicated wild-type sequence but retained the targeted codon were then derived. These animals were normally pigmented, indicating that the serine-to-alanine mutation is not deleterions to melanocyte development. The fact that mosaic coat reversions occur in all mice lacking the neo-cassette and that similar to 1% of these transmit a reverted allele to their offspring places this mutation among those with the highest spontaneous reversion rates in mammals.
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