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Elovl4tm1Wked
Targeted Allele Detail
Nomenclature
Symbol: Elovl4tm1Wked
Name: elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; targeted mutation 1, Wojciech Kedzierski
MGI ID: MGI:3711216
Gene: Elovl4  Location: Chr9:83778692-83806277 bp, - strand  Genetic Position: Chr9, 45.6 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:121481
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvEv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsA targeting vector was designed to insert a floxed neo and DNA construct containing a pathogenic 5-bp deletion and two point mutations in exon 6. This construct resulted in a truncated protein which contains the same aberrant 8-amino acid C-terminus encoded by the human pathogenic allele. The floxed neo was subsequently removed via cre mediated recombination. (J:121481)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Elovl4 Mutation:  17 strains or lines available
References
Original:  J:121481 McMahon A, et al., Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. Mol Vis. 2007;13:258-72
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/14/2019
MGI 6.14
The Jackson Laboratory