Pearl 16 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: The research was supported by NIH/NCRR grant RR01183 to the Mouse Mutant Resources (M.T. Davisson, PI) and Cancer Center Core Grant CA34196.

Mutation (allele) symbol: Ap3b1pe-16J

Mutation (allele) name: pearl 16 Jackson

Gene symbol: Ap3b1

Strain of origin: C57BL/6J-jc/J

Current strain name: C57BL/6J jc-Ap3b1pe-16J/J

Stock #: 005961 available as DNA only from the DNA Resource at The Jackson Laboratory

Phenotype categories: Coat color

Origin and Description

The Ap3b1pe-16J/J remutation was discovered by Sandra Gray in a Mouse Mutant Resource colony of C57BL/6J-jc/J (stock #000563) mice at the Jackson Laboratory on October 6, 2005. Mice homozygous for this spontaneous, recessive mutation are recognized by a diluted gray coat color. Like the original Ap3b1pe mutation, the Ap3b1pe-16J/J mutation also lightens the eyes, ears, feet and tail of homozygotes. (See photos-ventral and dorsal). The coat color of mice homozygous for pearl does darken slightly with age, as does the new Ap3b1pe-16J/J.  Both homozygous males and females breed and live a normal lifespan. Descriptions of three other remutations of the Ap3b1 gene, Ap3b1pe-13J/J,  Ap3b1pe-14J/J, and Ap3b1pe-15J/J are also available on this website.

Genetic Analysis

Based on the phenotypic similarities of this new mutation to the previously described Ap3b1pe mutation on Chromosome 13, a direct test for allelism was set up by mating  a female heterozygote from the strain B10.RIII H2r H2-T18b/(71NS)Sn- Ap3b1pe-11J/J (stock #003599) to a male homozygous for this new mutation. This mating produced 9 progeny in two litters, of which 6 mice were affected and 3 were not, proving the new mutation to be an allelic with Ap3b1pe.

Pathology

A routine pathological screen of mice carrying Ap3b1pe-16J mutation was not performed.

Acknowledgements

The authors wish to thank Sandra Gray for discovery of the mutant.