STOCK Elovl3^burf/GrsrJ

Stock number: 024182
Product name: buttery rumpled fur
Research areas: Dermatology Research, Metabolism Research, Sensorineural Research

Description

This spontaneous point transition in a splice acceptor site is predicted to cause a functional null allele. Homozygotes have yellow rumpled fur on this albino background and eye abnormalities that include delayed eyelid opening.

Detailed description

Albino mice homozygous for the buttery rumpled fur mutation have abnormal eyes and a disheveled coat in which the fur appears yellowish in color, like butter. The eye phenotype varies in severity but the eyelids are delayed in opening often by as much as three months. When the eyelids do open this is usually incomplete resulting in a squinting appearance. In some instances the eyelids open fully as the mouse ages. Additionally, the eyes weep and the skin around the eyes is often reddened. The eye phenotype can become very severe in some homozygotes while in others it may simply diminish with age. The homozygotes of both sexes are fertile and live a normal lifespan, and heterozygotes appear normal.

Development

The buttery ruffled fur phenotypic mutant was identified in a predominantly SWR/J background in which the X Chromosome had segments from SJL/J and CAST/EiJ. This recessive mutation was backcrossed for 7 generations by backcross-intercross to SWR/J before sperm was cryopreserved from homozygous males. IVF recovery for this bankstock is scheduled to use BALB/cByJ oocytes.

Allele

Symbol: Elovl3^burf
Name: buttery rumpled fur
MGI accession ID: MGI:5556073
Generation method: Spontaneous
Marker symbol: Elovl3
Marker name: elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3
Chromosome: 19
Strain of origin: SWR/J
Molecular note: This spontaneous G-to-A transition at chromosome 19 position 46,133,123 bp (GRCm38) eliminates the exon 2 splice acceptor site by changing it from CAG to CAA, which is expected to yield a functional null but this has not been confirmed with transcript or protein analysis.