C3Fe;C3-Mpzl3^ruf/J

Stock number: 001544
Product name: rough fur
Research areas: Dermatology Research, Endocrine Deficiency Research

Description

This spontaneous mutation causes enlarged sebaceous glands with dense, irregularly-shaped lipid droplets, mild hyperkeratosis, unkempt greasy fur, and in females decreased abdominal adipose tissue.

Detailed description

Rough fur homozygotes can be identified by the unkempt and greasy appearance of the fur at wean age and this persists throughout life. Palanza et al. reported that alopecia progresses such that by 28 weeks of age more than 80% of homozygotes have large bald patches affecting between 5 and 90% of the skin. They have mild hyperkeratosis of the skin and broken hairs. Park et al found hyper-sebum production with enlarged sebaceous glands having lipid droplets that are denser than normal and irregularly shaped. However, the hair follicles are normally formed and evenly distributed. Palanza et al. also reported that homozygous females have a decrease in abdominal adipose tissue at 28 weeks of age that is threefold lower than that of controls.

Development

The rough fur mutation arose spontaneously in 1985 in the inbred strain C3H/HeJ and was maintained coisogenic on this background by sibling breeding. Embryos were generated for cryopreservation from C3HeB/FeJ females bred to homozygous males at generation F15 and F16. Many years later two female heterozygotes thawed from this bankstock were bred to C3H/HeJ and their male offspring were backcrossed to the heterozygous mothers to generate homozygous males that were used for cryopreservation of sperm.

Allele

Symbol: Mpzl3^ruf
Name: rough fur
MGI accession ID: MGI:1856627
Generation method: Spontaneous
Marker symbol: Mpzl3
Marker name: myelin protein zero-like 3
Marker synonyms: 5430427F17Rik; A530065I17Rik; rc; RGD1310980; ruf
Chromosome: 9
Strain of origin: C3H/HeJ
Molecular note: Complimentation assay with Mpzl3^rc determined gene identity. However, sequence analysis failed to identify mutations in the promoter, exons and splice junctions.