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 129S;ICR-Vhlhtm1Bjg/J    (Changed: 11-SEP-08 ) Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F?+2 Generation Definitions   Donating Investigator Brian Gavin,   Bristol Myers-Squibb

Description
Mice homozygous for the Vhl^tm1Bjg targeted mutation are embryonic lethals. Homozygous mutant embryos show delays in early embryonic development. Development continues to 9.5 days after which mutant embryos undergo necrosis and resorption. On a gross morphological level two structures, the branchial arches and limb buds appear to be more significantly affected.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Vhl

012933	B6.129S4(C)-Vhltm1Jae/J
004081	C;129S-Vhltm1Jae/J

View Strains carrying other alleles of Vhl     (2 strains)

Phenotype

Phenotype Information

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.

Vhl^tm1Bjg/Vhl^tm1Bjg

        Background Not Specified

• mortality/aging
• complete embryonic lethality during organogenesis
  • development continues to 9.5 days after which mutant embryos undergo necrosis and resorption   (MGI Ref ID J:48254)
• embryogenesis phenotype
• abnormal branchial arch morphology
  • on a gross morphological level, the branchial arches appear to be severely affected   (MGI Ref ID J:48254)
• abnormal limb bud morphology
  • on a gross morphological level, the limb buds appear to be severely affected   (MGI Ref ID J:48254)
• embryonic growth retardation
  • homozygous mutant embryos show delays in early embryonic development   (MGI Ref ID J:48254)
• craniofacial phenotype
• abnormal branchial arch morphology
  • on a gross morphological level, the branchial arches appear to be severely affected   (MGI Ref ID J:48254)
• limbs/digits/tail phenotype
• abnormal limb bud morphology
  • on a gross morphological level, the limb buds appear to be severely affected   (MGI Ref ID J:48254)
• growth/size phenotype
• embryonic growth retardation
  • homozygous mutant embryos show delays in early embryonic development   (MGI Ref ID J:48254)

View Research Applications

Research Applications

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

Vhl^tm1Bjg related

Cancer Research
Tumor Suppressor Genes

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Vhltm1Bjg
Allele Name		targeted mutation 1, Brian J Gavin
Allele Type		Targeted (knock-out)
Common Name(s)		VHL-;
Mutation Made By		Brian Gavin,   Bristol Myers-Squibb
Strain of Origin		129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
ES Cell Line Name		CJ7
ES Cell Line Strain		129S1/Sv-Oca2<+> Tyr<+> Kitl<+>
Gene Symbol and Name		Vhl, von Hippel-Lindau tumor suppressor
Chromosome		6
Gene Common Name(s)		HRCA1; RCA1; VHL1; Vhlh; pVHL; von Hippel-Lindau syndrome homolog;
Molecular Note		Molecular details for this gene targeted allele are unpublished and not available.

Genotyping

Genotyping Information

Genotyping Protocols

NEOTD (Generic Neo), Standard PCR
Vhl^tm1Bjg, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Vhl^tm1Bjg related

Champion KJ; Guinea M; Dammai V; Hsu T. 2008. Endothelial function of von Hippel-Lindau tumor suppressor gene: control of fibroblast growth factor receptor signaling. Cancer Res 68(12):4649-57. [PubMed: 18559510]  [MGI Ref ID J:138899]

Haase VH. 2005. The VHL tumor suppressor in development and disease: functional studies in mice by conditional gene targeting. Semin Cell Dev Biol 16(4-5):564-74. [PubMed: 15908240]  [MGI Ref ID J:101112]

Ohh M; Yauch RL; Lonergan KM; Whaley JM; Stemmer-Rachamimov AO; Louis DN; Gavin BJ; Kley N; Kaelin WG Jr; Iliopoulos O. 1998. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol Cell 1(7):959-68. [PubMed: 9651579]  [MGI Ref ID J:48254]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• 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
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.

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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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