Elovl3^burf
Spontaneous Allele Detail

Summary

• Symbol: Elovl3^burf
• Name: ELOVL fatty acid elongase 3; buttery rumpled fur
• MGI ID: MGI:5556073
• Gene: Elovl3 Location: Chr19:46120336-46124133 bp, + strand Genetic Position: Chr19, 38.75 cM
• Alliance: Elovl3^burf page

Elovl3^burf/Elovl3^burf (on the left) mouse at P18 showing eye and fur phenotypes

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: SWR/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:222308)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Elovl3 Mutation: 23 strains or lines available

References

• Original: J:223995 Harris BS, et al., The buttery rumpled fur mutation. MGI Direct Data Submission. 2015
• All: 3 reference(s)