The skin and eyelids of these SCD1knock-out mice are deficient in triglycerides and cholesterol esters, and the eyelid also is deficient in wax esters that are all required for normal skin and eyelid function.
Dr. James Ntambi, University of Wisconsin-Madison
Homozygous mice are viable and fertile. Transcripts from the targeted gene are absent in homozygous liver, eyelid, skin, and white adipose tissues. In addition, the endogenous protein and enzyme activity are absent from homozygous liver tissue. Homozygous mice exhibit cutaneous abnormalities and narrow eye fissure with atrophic sebaceous and meibomian glands. Mutant mice also have reduced body adiposity, increased insulin sensitivity, increased basal and insulin-mediated glucose uptake, and are resistant to diet-induced weight gain. Homozygotes have altered hepatic glycerophospholipid profiles. Homozygous mice are not recommended for breeding as skin lesion severity may prohibit colony success. These mutant mice may be useful in studies of monounsaturated fatty acid synthesis, cholesterol homeostasis, skin disease, obesity, and diabetes.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description as published results become available.
A targeting vector was designed to replace all 6 exons of the endogenous gene with a neomycin-resistant cassette. This construct was electroporated into 129/Sv-derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. Chimeric males were then crossed with 129/SvEv Taconic females to generate the colony. Mutant mice were backcrossed to C57BL/6J for ten generations and then made homozygous prior to arrival at The Jackson Laboratory.
|Allele Name||targeted mutation 1, James M Ntambi|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Scd1, stearoyl-Coenzyme A desaturase 1|
|Strain of Origin||Not Specified|
|Molecular Note||The entire coding region of the gene (exons 1-6) was replaced with a neomycin resistance cassette via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Northern blot analysis of various tissue samples and by Western blot analysis of liver protein extracts. Enzyme activity was also undetectable in liver extracts from homozygous animals.|
|Mutations Made By|| |
Dr. Makoto Miyazaki, University of Colorado, Denver
When maintaining a live colony, heterozygous mice are bred. Homozygous mice are not recommended for breeding as skin lesion severity may prohibit colony success.
When using the SCD1 KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #006201 in your Materials and Methods section.
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