Elovl4^tm1Wked
Targeted Allele Detail

Summary

• Symbol: Elovl4^tm1Wked
• Name: ELOVL fatty acid elongase 4; targeted mutation 1, Wojciech Kedzierski
• MGI ID: MGI:3711216
• Synonyms: Elov14^mut
• Gene: Elovl4 Location: Chr9:83660745-83688330 bp, - strand Genetic Position: Chr9, 45.6 cM
• Alliance: Elovl4^tm1Wked page

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 details: A targeting vector was designed to insert a floxed neo and DNA construct containing a pathogenic 5-bp deletion ((797-801_AACTT) 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 36 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: 5 reference(s)