These Cyp51flox/flox mutant mice possess loxP sites flanking exons 3-4 of the cytochrome P450, family 51 (Cyp51) gene. This strain may be useful for studying Antley-Bixler syndrome (ABS).
Simon Horvat, University of Ljubljana
These Cyp51flox/flox mutant mice possess loxP sites flanking exons 3-4 of the cytochrome P450, family 51 (Cyp51) gene. Mice that are homozygous for this allele are viable and fertile. CYP51 is an enzyme that catalyzes the oxidation of organic substances in metabolic processes such as cholesterol synthesis and drug metabolism. Inactivation of CYP51 is thought to give rise to a similar phenotype as mutation in the human gene POR (cytochrome P450 oxidoreductase) that has been associated with Antley-Bixler syndrome (ABS), characterized by skeletal, cardiac, and urogenital abnormalities. When these mutant mice are bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 3-4 deleted in the cre-expressing tissues.
For examples, when bred to B6.FVB-Tg(EIIa-cre)C5379Lmgd/J mice (Stock No. 003724) with widespread cre expression, resulting offspring died at E15 due to heart failure, ventricle septum, and epicardial and vasculogenesis defects.
A targeting vector was designed to insert a loxP site upstream of exon 3 and a second loxP site downstream of exon 4 of the cytochrome P450, family 51 (Cyp51) gene. A frt-flanked neomycin resistance (neo) cassette was inserted between exons 3 and 4. The construct was electroporated into 129P2/OlaHsd-Hprtb-m3-derived HM-1 embryonic stem (ES) cells. Correctly targeted ES cells were electroporated with Flp-expressing transgene to delete the neo cassette. Resulting ES cells were injected into C57BL/6JOlaHsd blastocysts. Progeny were backcrossed to C57BL/6 mice for at least 15 generations. Upon arrival, mice were bred to C57BL/6J inbred mice (Stock No. 000664) for at least one generation to establish the colony.
|Allele Name||targeted mutation 1, Simon Horvat|
|Allele Type||Targeted (Conditional ready (e.g. floxed), No functional change)|
|Gene Symbol and Name||Cyp51, cytochrome P450, family 51|
|Strain of Origin||129P2/OlaHsd-Hprtb-m3|
|Molecular Note||Homology arms were isolated from BAC clone 519E21 (Research Genetics). An frt flanked PGKneo cassette was inserted in intron 3 and loxP sites were inserted in introns 2 and 4. The neo selection cassette was removed from correctly targeted ES cells by Flp mediated recombinase.|
When maintaining a live colony, homozygous mice may be bred together.
When using the B6.129P2-Cyp51tm1Bfro/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #021790 in your Materials and Methods section.