Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System +/+ sibling x Heterozygote         (Female x Male)   30-OCT-07 Species laboratory mouse Generation N11F3+N1F2 (27-JAN-09)   Donating Investigator Dr. James Ntambi,   University of Wisconsin-Madison

Description
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.

Development
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.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Scd2^tm1Myz/Scd2^tm1Myz

        B6.129-Scd2^tm1Myz

• lethality-prenatal/perinatal
• neonatal lethality (MGI Ref ID J:101158)
  • all homozygous mice die within 24 hours of birth
  • the penetrance of lethality is decreased on a 129S6 background (70%) compared to a C57BL/6 background (100%)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Scd2^tm1Myz/Scd2^tm1Myz

        129S6.129-Scd2^tm1Myz

• lethality-prenatal/perinatal
• neonatal lethality (MGI Ref ID J:101158)
  • about 70% of homozygous mice die within 24 hours of birth
  • the penetrance of lethality is decreased on a 129S6 background (70%) compared to a C57BL/6 background (100%)
• skin/coat/nails phenotype
• abnormal lamellar body morphology (MGI Ref ID J:101158)
  • a decrease in the internal contents of lamellar bodies and a delay in lamellar membrane maturation and phase separation forming a two-phase extracellular system are seen by electrom microscopy; however the number of lamellar bodies is normal
• abnormal skin condition (MGI Ref ID J:101158)
  • within a few hours of birth the skin appears dry and cracked
• abnormal skin physiology (MGI Ref ID J:101158)
  • the epidermal lipid composition is altered with repartitioning of linoleic acid from the acylceramide fraction into the phospholipid fraction and a decrease in the cholesteryl ester, triglyceride, acylceramide, and glucosylacylceramide contents
• impaired skin barrier function (MGI Ref ID J:101158)
• hyperkeratosis (MGI Ref ID J:101158)
  • the stratum corneum is tightly packed and thickened; however hair follicle structure is normal and surviving adults have normal sebaceous glands and hair growth
• homeostasis/metabolism phenotype
• decreased fatty acid level (MGI Ref ID J:101158)
  • hepatic free fatty acid levels are 27% lower in newborn but not adult homozygotes
• decreased triglyceride level (MGI Ref ID J:101158)
  • hepatic triglyceride contents are decreased by 48% in newborn but not adult homozygotes; however hepatic glycogen levels are normal
• decreased circulating triglyceride level (MGI Ref ID J:101158)
  • circulating triglyceride levels are 44% lower
• dehydration (MGI Ref ID J:101158)
  • body weight of newborn homozygotes rapidly decreases
• impaired skin barrier function (MGI Ref ID J:101158)
• liver/biliary system phenotype
• abnormal liver physiology (MGI Ref ID J:101158)
  • hepatic triglyceride contents are decreased by 48% and free fatty acid levels are 27% lower in newborn but not adult homozygotes; however hepatic glycogen levels are normal
  • newborn but not adult livers show a 54% reduction in the rate of triglyceride synthesis
• limbs/digits/tail phenotype
• curly tail (MGI Ref ID J:101158)
  • adult homozygotes have a twisted tail
• growth/size phenotype
• decreased body size (MGI Ref ID J:101158)
  • newborn homozygotes are significantly smaller than wild-type littermates

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Cardiovascular Research
Other
      altered fat metabolism
      altered lipoprotein profile

Dermatology Research
Other
Skin and Hair Texture Defects

Developmental Biology Research
Internal/Organ Defects
      liver
Skin and Hair Texture Defects

Diabetes and Obesity Research
Insulin Receptors and Growth Factors

Endocrine Deficiency Research
Skin Defects

Internal/Organ Research
Liver Defects

Metabolism Research
Enzyme Deficiency
Lipid Metabolism

Research Tools
Cardiovascular Research
Dermatology Research
Developmental Biology Research
Diabetes and Obesity Research
Endocrine Deficiency Research
Internal/Organ Research

Genes & Alleles

Gene & Allele Information

Allele Symbol		Scd2tm1Myz
Allele Name		targeted mutation 1, Makoto Miyazaki
Allele Type		Targeted (knock-out)
Common Name(s)		Scd2-;
Mutation Made By		Dr. Makoto Miyazaki,   University of Wisconsin-Madison
Strain of Origin		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line Name		R1
ES Cell Line Strain		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name		Scd2, stearoyl-Coenzyme A desaturase 2
Chromosome		19
Gene Common Name(s)		FADS5; MSTP008; SCD1; SCDOS; Scd-2;
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. [MGI Ref ID J:101158]

Genotyping

Genotyping Information

Genotyping Protocols

Scd2^tm1Myz, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References

Selected Reference(s)

Miyazaki M; Dobrzyn A; Elias PM; Ntambi JM. 2005. Stearoyl-CoA desaturase-2 gene expression is required for lipid synthesis during early skin and liver development. Proc Natl Acad Sci U S A 102(35):12501-6. [PubMed: 16118274]  [MGI Ref ID J:101158]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Breeding & Husbandry	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.
Mating System	+/+ sibling x Heterozygote         (Female x Male)   30-OCT-07
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Ordering and Purchasing Information

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Contact Information
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

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