Mice heterozygous for the GnaqM1J point mutation in the amino-terminus of the alpha-helical domain have darker than normal tails, ears, lower legs, foot pads, and dorsal skin. Compared with C57BL/6J controls, heterozygous tails have high levels of dermal hyperpigmentation and interfollicular epidermal pigmentation while the leg skin and foot pads of heterozygotes have dermal hyperpigmentation but no interfollicular pigment in the epidermis. Dorsal skin sections from heterozygotes show pigmentation in the dermal papilla and in the fibrous streaks remaining at the end of the catagen stage extending into the underlying dermis.
The dominant GnzqM1J mutation was identified in the progeny of an ENU mutagenized C57BL/6J male and has been maintained co-isogenic on this background by backcrossing heterozygotes to C57BL/6J. Sperm was cryopreserved from heterozygous males at generation N3.
|Allele Name||mutation 1, Jackson|
|Allele Type||Chemically induced (ENU) (Not Specified)|
|Gene Symbol and Name||Gnaq, guanine nucleotide binding protein, alpha q polypeptide|
|Strain of Origin||C57BL/6J|
|Molecular Note||This ENU-induced mutation has an A to G transition in exon 2, Chromosome 19 position 16,219,611 bp (GRCm38), predicted to cause a threonine to alanine substitution at amino acid 54.|
When using the C57BL/6J-GnaqM1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #024063 in your Materials and Methods section.