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

Type Congenic; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse   Donating Investigator Paul Pilch,   Boston University

Description
Mice homozygous for the targeted mutation are viable and fertile, however, they exhibit a lean body mass and a reduced metabolic capacity. No gene product is detected by Western blot analysis. Mice lack caveolae in lung epithelium, intestinal smooth muscle, skeletal muscle and in the corresponding endothelial cells. In addition, homozygotes have increased triglyceride, insulin and free fatty acid levels and exhibit both impaired glucose tolerance and insulin resistance.

This mutant mouse strain may be useful in studies of lipodystrophies and metabolic dysfunction

Development
A targeting vector containing the lacZ and neomycin resistance genes was used to disrupt exon 1. The construct was electroporated into 129S6/SvEvTac-derived TC1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric female animals were crossed to C57BL/6 male mice. This line was backcrossed to C57BL/6 (see SNP note below) for a minimum of five generations by the donating laboratory.

A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome suggested a C57BL/6 genetic background, all 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a C57BL/6N genetic background.

Control Information

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

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Lipodystrophy, Congenital Generalized, Type 4; CGL4

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.

Ptrf^tm1Pfp/Ptrf^tm1Pfp

        involves: 129S6/SvEvTac * C57BL/6

• homeostasis/metabolism phenotype
• abnormal basal metabolism
  • mice display a lower resting metabolic rate compared to wild-type mice   (MGI Ref ID J:143425)
• abnormal circulating hormone level   (MGI Ref ID J:143425)
• • decreased circulating leptin level
    • serum leptin and adiponectin levels are lower than in wild-type mice   (MGI Ref ID J:143425)
  • increased circulating insulin level   (MGI Ref ID J:143425)
• abnormal circulating lipid level   (MGI Ref ID J:143425)
• • hyperlipidemia   (MGI Ref ID J:143425)
  • increased circulating free fatty acid level   (MGI Ref ID J:143425)
  • increased circulating triglyceride level   (MGI Ref ID J:143425)
• impaired glucose tolerance   (MGI Ref ID J:143425)
• insulin resistance   (MGI Ref ID J:143425)
• growth/size phenotype
• increased lean body mass
  • mice are leaner than wild-type mice   (MGI Ref ID J:143425)
• cellular phenotype
• absent caveolae
  • in lung epithelium and skeletal muscle   (MGI Ref ID J:143425)
• behavior/neurological phenotype
• hypoactivity   (MGI Ref ID J:143425)

View Research Applications

Research Applications

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

Cardiovascular Research
Hypertriglyceridemia

Diabetes and Obesity Research
Hyperinsulinemia
Insulin Resistance

Metabolism Research
Lipid Metabolism

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Ptrftm1Pfp
Allele Name		targeted mutation 1, Paul F Pilch
Allele Type		Targeted (Reporter)
Common Name(s)		Cavin-;
Mutation Made By		Paul Pilch,   Boston University
Strain of Origin		129S6/SvEvTac
ES Cell Line Name		TC1/TC-1
ES Cell Line Strain		129S6/SvEvTac
Gene Symbol and Name		Ptrf, polymerase I and transcript release factor
Chromosome		11
Gene Common Name(s)		2310075E07Rik; AW546441; CAVIN; CAVIN1; CGL4; RIKEN cDNA 2310075E07 gene; cavin-1; expressed sequence AW546441;
Molecular Note		Exon 1 was replaced with a lacZ and neo cassette. The absence of protein expression was confirmed by western blot analysis on lung and adipocyte extracts. [MGI Ref ID J:143425]

Genotyping

Genotyping Information

Genotyping Protocols

Ptrf^tm1Pfp, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Liu L; Brown D; McKee M; Lebrasseur NK; Yang D; Albrecht KH; Ravid K; Pilch PF. 2008. Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. Cell Metab 8(4):310-7. [PubMed: 18840361]  [MGI Ref ID J:143425]

Additional References

Ptrf^tm1Pfp related

Bastiani M; Liu L; Hill MM; Jedrychowski MP; Nixon SJ; Lo HP; Abankwa D; Luetterforst R; Fernandez-Rojo M; Breen MR; Gygi SP; Vinten J; Walser PJ; North KN; Hancock JF; Pilch PF; Parton RG. 2009. MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. J Cell Biol 185(7):1259-73. [PubMed: 19546242]  [MGI Ref ID J:150419]

Tkachenko E; Tse D; Sideleva O; Deharvengt SJ; Luciano MR; Xu Y; McGarry CL; Chidlow J; Pilch PF; Sessa WC; Toomre DK; Stan RV. 2012. Caveolae, fenestrae and transendothelial channels retain PV1 on the surface of endothelial cells. PLoS One 7(3):e32655. [PubMed: 22403691]  [MGI Ref ID J:186939]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are bred as heterozygotes. The Donating Investigator indicates that homozygous matings might result in decreased litter sizes.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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.

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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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