Pearl 13 Jackson, a remutation of the Ap3b1 gene

Richard M Samples, Patricia F. Ward-Bailey, Leah Rae Donahue, Roderick T. Bronson and Muriel T. Davisson

Source of Support: This research was supported by grants RR01183 to the Mouse Mutant Resource (M.T. Davisson, PI) and Cancer Core Grant CA34196.

Mutation (allele) symbol: Ap3b1pe-13J

Mutation (allele) name: Pearl 13 Jackson

Gene symbol: Ap3b1

Strain of origin: STOCK TgN(GFPU)5Nagy/J

Current strain name: STOCK TgN(GFPU)5Nagy/J-Ap3b1pe-13J

Stock #: 005444 (Available as DNA only from the Jackson Laboratory DNA Resource)

Phenotype categories: Coat color

Origin and Description

The Ap3b1pe-13J remutation was discovered by Dolly Rossi in a production colony of STOCK TgN(GFPU)5Nagy/J mice in Annex 2 at the Jackson Laboratory on September 24, 2003. Mice homozygous for this spontaneous, recessive remutation are recognizable by a diluted gray coat color not different from the original pearl  allele (MGD 2005). A smaller amount of pigment in the eyes makes them appear lighter in color, and the ears, feet and tail are lighter in color than control littermates. Both homozygous males and females breed and live a normal lifespan.

Genetic Analysis

In order to determine the mode of inheritance, a female, homozygous for this new mutation, was mated to an unrelated C56BL/6J male. No affected offspring were observed in the F1 generation produced from this mating. Mice from this F1 generation were then mated together to produce F2s, and in this cross both affected and unaffected animals were produced showing that the mutation is recessive.

A direct test for allelism was set up by mating a female homozygous for the new mutation to a male homozygous for Ap3b1pe-11J. This mating produced 1 litter in which all offspring were affected (5/5 animals), proving the new mutation to be an allele of Ap3b1pe. The Ap3b1pe gene is located at the 47 cM position on  Mouse Chromosome 13 (MGD).

Acknowledgements

The authors wish to thank Dolly Rossi for discovery of the mutant.

References

Mouse Genome Database (MGD) Mouse Genome Informatics Project, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web

(URL:http://www.informatics.jax.org)