Homozygotes can be identified by 7 to 8 days of age. They have a slightly shiny, off-white coat color with sparse hair, and some adults develop an irritation around the eyes. The zigzag hairs are abnormal, having extra kinks.
This mutation arose spontaneously at The Jackson Laboratory in 2007 in the strain 129;FVB-Tg(PTH-cre)4167Slib/J (stock #005989). This mutant subline was maintained by sibling breeding for 8 generations, then one backcross to FVB/NJ, before resuming sibling inbreeding heterozygotes with homozygotes. The transgene has been bred out of this mutant subline.
|Allele Name||mutation 1, Jackson|
|Gene Symbol and Name||Tmem79, transmembrane protein 79|
|Strain of Origin||129;FVB-Tg(PTH-cre)4167Slib/J|
|Molecular Note||This spontaneous mutation has a G-to-A transition that changes amino acid 214 from glycine to arginine (p.G214R).|