Faculty Research 1990 - 1999

The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains.

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Animal, Animals-Wild: ge, im, Asia, Base-Sequence, DNA: ge, DNA-Primers: ge, Eye-Color: ge, Gene-Expression-Regulation, Mice: ge, im, Mice-Inbred-Strains: ge, im, Minor-Histocompatibility-Antigens: ge, Minor-Histocompatibility-Loci, Molecular-Sequence-Data, Mutation, MyoD-Protein: ge, Polymerase-Chain-Reaction, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

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Genetics 1994 Sep;138(1):203-11


GM43840/GM/NIGMS, CA06927/CA/NCI, RR05539/RR/NCRR


Allelic variation of the mouse pink-eyed dilution (p) gene in common laboratory strains and wild mice was examined by Southern blot and by polymerase chain reaction. In these assays the original p mutation allele found in strains SJL/J, 129/J, B10.129(21m), P/J and FS/Ei most closely matches an Asian Mus musculus allele, confirming anecdotal accounts of the Asian origin of this mutation. In contrast, the wild-type allele found in other common laboratory strains was apparently derived from Mus domesticus. Analysis of chromosome 7 loci both proximal and distal to the p locus demonstrates that strains SJL/J, 129/J, B10.129(21M), P/J and FS/Ei contain DNA segments of varying length derived from M. musculus. Strains 129/J and B10.129(21M) contain the largest segment of M. musculus-derived DNA (about 5 cM), including the loci Myod1, p, three clustered GABAA receptor subunit loci (Gabrg3, Gabra5 and Gabrb3), and Snrpn. The difference in the species origin of genes from this region of chromosome 7 may underlie the basis of the antigenicity of the minor histocompatibility antigen H4, defined by the strain B10.129(21M), and may account for the enhanced Myod1 activity observed in SJL/J mice.