Homozygous Scd2tm1Myz knockout mice otherwise show abnormal epidermal morphology and abnormal lipid homeostasis in the skin and liver, but display 100% neonatal lethality on this C57BL/6 background.
Dr. James Ntambi, University of Wisconsin-Madison
While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die within 24 hours of birth. Brain tissues from homozygous mice show no expression from the targeted gene. Homozygotes exhibit neonatal lethality with 100% penetrance on this genetic background (less penetrant on 129SvEv genetic background) likely due to severe skin permeability barrier abnormalities. Null mice also have abnormal epidermal morphology and abnormal lipid homeostasis in the skin and liver. These mutant mice may be useful in studying monounsaturated fatty acid synthesis, lipid biosynthesis and metabolism, cholesterol homeostasis, and skin disease, as well as obesity and diabetes.
A targeting vector was designed to replace exons 1-6 of the targeted gene with a neomycin resistance cassette. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were microinjected into C57BL/6 blastocysts, and chimeric offspring were bred to C57BL/6 mice. Heterozygous mutants were backcrossed for at least 10 generations prior to arrival at The Jackson Laboratory.
|Allele Name||targeted mutation 1, Makoto Miyazaki|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Scd2, stearoyl-Coenzyme A desaturase 2|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||A targeting vector was designed to replace exons 1-6 of the locus, the entire coding sequence. Expression was absent in mutant brains.|
|Mutations Made By|| |
Dr. Makoto Miyazaki, University of Colorado, Denver
When maintaining a live colony, heterozygous mice may be bred together, or to wildtype siblings or C57BL/6J inbred mice. Homozygous mice on this genetic background exhibit 100% lethality within 24 hours of birth.
When using the SCD2 KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #006879 in your Materials and Methods section.