Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6.129-Scp2tm1Usee/J    (Changed: 26-JAN-07 ) 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 Generation N10+N1F3pN1 Generation Definitions   Donating Investigator Dr. Udo Seedorf,   of Arteriosclerosis Research

Description
Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. No protein product from the targeted gene is detected in liver tissue. Northern blot experiments show a low-intensity signal from a non-functional truncated transcript, however. Histologically, greater numbers of peroxisomes are observed in the livers of these mice. Liver function appears normal based on liver enzyme levels, but cholesterol and triglyceride storage pools are depleted. Hepatic gene expression is altered. Higher expression levels of liver fatty acid binding protein and multiple peroxisomal beta-oxidation enzymes are observed. Whereas plasma insulin and cholesterol concentrations are normal, triglycerides are slightly higher and free fatty acid and glucose concentrations are moderately lower in homozygous mice. Food intake is significantly higher in homozygotes as compared to control animals. A prononounced accumulation of phytanic acid is observed in homozygotes. Diets supplemented with 5 mg/g phytol (a metabolic precursor of branched-chain fatty acids) cause weight loss, decreased lipid and glucose levels in serum, liver disease, ataxia, peripheral neuropathy, and sudden cardiac death in the mice. These mice demonstrate defective catabolism of branched-chain fatty acids and altered bile acid synthesis due to impaired peroxisomal beta-oxidation.

Development
A targeting vector containing a neomycin resistance gene was used to replace exon 14 of the gene. The construct was electroporated into 129P2/OlaHsd-derived E14 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. Chimeric animals were crossed with C57BL/6 for at least ten generations before the line was made homozygous for the mutation.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Leukoencephalopathy with Dystonia and Motor Neuropathy   (SCP2)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Scp2^tm1Usee/Scp2^tm1Usee

        involves: 129P2/OlaHsd * C57BL/6

• behavior/neurological phenotype
• abnormal food intake
  • food intake is increased considerably in spite of a normal body weight   (MGI Ref ID J:47280)
• growth/size phenotype
• *normal* growth/size phenotype
  • body weight normal   (MGI Ref ID J:47280)
• homeostasis/metabolism phenotype
• abnormal lipid level   (MGI Ref ID J:47280)
• • abnormal bile salt level
    • bile salt levels lower than normal and increase on a lithogenic diet than in controls   (MGI Ref ID J:73460)
  • abnormal circulating cholesterol level   (MGI Ref ID J:73460)
  • • increased circulating HDL cholesterol level
      • levels higher than in controls and drop less on a lithogenic diet   (MGI Ref ID J:73460)
    • increased circulating LDL cholesterol level
      • increases on a lithogenic diet but less than in control mice   (MGI Ref ID J:73460)
    • increased circulating VLDL cholesterol level
      • increases on a lithogenic diet but less than in control mice   (MGI Ref ID J:73460)
  • decreased circulating free fatty acid level
    • circulating levels are slightly decreased   (MGI Ref ID J:47280)
  • decreased liver cholesterol level
    • hepatic cholesterol ester levels are depleted   (MGI Ref ID J:47280)
    • increased hepatic cholesterol resulting from a lithogenic diet is less than in controls   (MGI Ref ID J:73460)
  • decreased liver triglyceride level
    • hepatic triglyceride storage pools are depleted   (MGI Ref ID J:47280)
  • increased circulating triglyceride level
    • circulating levels are slightly elevated   (MGI Ref ID J:47280)
  • increased fatty acid level
    • phytanic acid levels are about 10X normal   (MGI Ref ID J:47280)
• liver/biliary system phenotype
• abnormal bile secretion
  • biliary secretion of cholesterol due to a lithogenic diet less than in control mice   (MGI Ref ID J:73460)
• decreased liver cholesterol level
  • hepatic cholesterol ester levels are depleted   (MGI Ref ID J:47280)
  • increased hepatic cholesterol resulting from a lithogenic diet is less than in controls   (MGI Ref ID J:73460)
• decreased liver triglyceride level
  • hepatic triglyceride storage pools are depleted   (MGI Ref ID J:47280)

View Research Applications

Research Applications

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

Internal/Organ Research
Adipose Defects
Heart Abnormalities
Liver Defects

Metabolism Research
Lipid Metabolism

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Scp2tm1Usee
Allele Name		targeted mutation 1, Udo Seedorf
Allele Type		Targeted (knock-out)
Common Name(s)		Scp2 -;
Mutation Made By		Dr. Udo Seedorf,   of Arteriosclerosis Research
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14
ES Cell Line Strain		129P2/OlaHsd
Gene Symbol and Name		Scp2, sterol carrier protein 2, liver
Chromosome		4
Gene Common Name(s)		AA409774; AA409893; C76618; C79031; NLTP; NSL-TP; NSLIPTR; SCP-2; SCP-CHI; SCP-X; SCPX; expressed sequence AA409774; expressed sequence AA409893; expressed sequence C76618; expressed sequence C79031; nonspecific lipid transfer protein; ns-LTP;
Molecular Note		Exon 14 was disrupted by the insertion of a neomycin cassette. Sequence analysis of truncated transcript identified by Northern analysis, showed that an aberrant splice pattern resulted in the excision of exon 14. The joining of exons 13 and 15 resulted in a frameshift mutation which introduced a stop codon in exon 15, upstream of an essential peroxisomal targeting signal. Western analysis revealed an absence of normal protein in the livers of homozygous mutant mice. [MGI Ref ID J:47280]

Genotyping

Genotyping Information

Genotyping Protocols

Scp2^tm1Usee, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Seedorf U; Raabe M; Ellinghaus P; Kannenberg F; Fobker M; Engel T; Denis S; Wouters F; Wirtz KW; Wanders RJ; Maeda N; Assmann G. 1998. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function. Genes Dev 12(8):1189-201. [PubMed: 9553048]  [MGI Ref ID J:47280]

Additional References

Scp2^tm1Usee related

Ellinghaus P; Wolfrum C; Assmann G; Spener F; Seedorf U. 1999. Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/ sterol carrier protein x-deficient mice. J Biol Chem 274(5):2766-72. [PubMed: 9915808]  [MGI Ref ID J:52424]

Fuchs M; Hafer A; Munch C; Kannenberg F; Teichmann S; Scheibner J; Stange EF; Seedorf U. 2001. Disruption of the sterol carrier protein 2 gene in mice impairs biliary lipid and hepatic cholesterol metabolism. J Biol Chem 276(51):48058-65. [PubMed: 11673458]  [MGI Ref ID J:73460]

Kannenberg F; Ellinghaus P; Assmann G; Seedorf U. 1999. Aberrant oxidation of the cholesterol side chain in bile acid synthesis of sterol carrier protein-2/sterol carrier protein-x knockout mice. J Biol Chem 274(50):35455-60. [PubMed: 10585416]  [MGI Ref ID J:58892]

Monnig G; Wiekowski J; Kirchhof P; Stypmann J; Plenz G; Fabritz L; Bruns HJ; Eckardt L; Assmann G; Haverkamp W; Breithardt G; Seedorf U. 2004. Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice. J Cardiovasc Electrophysiol 15(11):1310-6. [PubMed: 15574183]  [MGI Ref ID J:115572]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
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.

---

Ordering Information
JAX^® Mice
Surgical and Preconditioning Services
JAX^® Services
Customer Services and Support
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

Contact information

General inquiries regarding Terms of Use

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.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.