C57BL/6J-Gnaq^M1J/GrsrJ

Stock number: 024063
Research areas: Dermatology Research, Developmental Biology Research

Description

The Gnaq^M1J point mutation in the amino-terminus of the alpha-helical domain causes dominant hyperpigmentation.

Detailed description

Mice heterozygous for the Gnaq^M1J 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.

Development

The dominant Gnzq^M1J 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

Symbol: Gnaq^M1J
Name: mutation 1, Jackson
MGI accession ID: MGI:5516345
Generation method: Chemically induced (ENU)
Attributes: Not Specified
Marker symbol: Gnaq
Marker name: guanine nucleotide binding protein, alpha q polypeptide
Chromosome: 19
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.