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| Nomenclature |
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Symbol:
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Elovl4tm1Wked
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Name:
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elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4;
targeted mutation 1, Wojciech Kedzierski
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MGI ID: |
MGI:3711216 |
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Gene:
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Elovl4
Location:
Chr9:83778693-83806305 bp, - strand
Genetic Position: Chr9,
45.6 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:121481
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/SvEv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Elovl4 Mutation:
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0 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
