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Elovl3burf
Spontaneous Allele Detail
Nomenclature
Symbol: Elovl3burf
Name: elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3; buttery rumpled fur
MGI ID: MGI:5556073
Gene: Elovl3  Location: Chr19:46131897-46135694 bp, + strand  Genetic Position: Chr19, 38.75 cM
Elovl3burf/Elovl3burf (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 detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  18 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory