|These Fa2hflox/flox mice may be useful for studying the lipid profile of myelin disorders of the central nervous system.|
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Donating Investigator Hiroko Hama, Medical University of South Carolina
These Fa2hflox/flox mice possess loxP sites flanking exons 5-6 of the fatty acid 2-hydroxylase (Fa2h) gene. FA2H catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Mutations in the human gene have been associated with leukodystrophy, spastic paraplegia, and neurodegeneration with brain iron accumulation. Mice that are homozygous for this allele are viable and fertile. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 5-6 deleted in the cre-expressing tissues.
A targeting vector was designed to insert a loxP site upstream of exon 5 followed by a frt-flanked neomycin resistance (neo) cassette, and a second loxP site downstream of exon 6 of the fatty acid 2-hydroxylase (Fa2h) gene. The construct was electroporated into 129Sv/J embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts and resulting chimeric mice were bred with Flpe transgenic mice on a B6 background to delete the neo cassette. Progeny were crossed to remove the Flp-expressing transgene. These mice were bred to C57BL/6NCrl mice for 3 generations and then to C57BL/6J for at least 7 generations. Upon arrival, mice were bred to C57BL/6J inbred mice (Stock No. 000664) for at least one generation to establish the colony.
|Considerations for Choosing Controls|
View Related Disease (OMIM) TermsRelated Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.View Mammalian Phenotype TermsMammalian Phenotype Terms provided by MGIassigned by genotype
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.
- no phenotypic analysis
- *normal* no phenotypic analysis (MGI Ref ID J:204276)
View Research Applications
|Allele Name||targeted mutation 1.2, Hiroko Hama|
|Allele Type||Targeted (Conditional ready (e.g. floxed), No functional change)|
|Strain of Origin||129|
|Gene Symbol and Name||Fa2h, fatty acid 2-hydroxylase|
|Gene Common Name(s)||FAAH; FAH1; FAXDC1; Faxdc1; G630055L08Rik; RGD1310347; RIKEN cDNA G630055L08 gene; SCS7; SPG35; Wdr59; fatty acid hydroxylase domain containing 1;|
|Molecular Note||A loxP site was inserted in intron 4, and a Frt-flanked neomycin resistance cassette and a loxP site were inserted in intron 6. Flp-mediated recombination removed the neomycin resistance cassette and left exons 5 and 6 floxed. [MGI Ref ID J:204276]|
Potter KA; Kern MJ; Fullbright G; Bielawski J; Scherer SS; Yum SW; Li JJ; Cheng H; Han X; Venkata JK; Akbar Ali Khan P; Rohrer B; Hama H. 2011. Central nervous system dysfunction in a mouse model of Fa2h deficiency. Glia 59(7):1009-21. [PubMed: 21491498] [MGI Ref ID J:171655]
Hama H. 2014. Direct Data Submission MGI Direct Data Submission :. [MGI Ref ID J:204276]
Breeding & Husbandry When maintaining a live colony, homozygous mice may be bred together.
This strain is currently Awaiting Transfer from the Donor.On 10-APR-14 this strain was accepted for import and is now awaiting transfer to our campus. View All Strains Awaiting Transfer from the Donor, In Progress and On Hold
|Considerations for Choosing Controls|
|Control Pricing Information for Genetically Engineered Mutant Strains.|
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