Mice homozygous for the Vhltm1Bjg 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.
The mutation was made by a gene targeting vector which contains an insertion of the PGK-neo cassette 12 and 72 nucleotides downstream of the two ATG initiation codons. The VHL protein has been shown to act as a competitive inhibitor of the action of the transcription elongation complex SIII in vitro. It has also been implicated in the negative regulation of VEGF. The effect of the null mutation has not been characterized at the molecular level. The strain originated on a 129Sv/J-ICR F1 hybrid background.
|Allele Name||targeted mutation 1, Brian J Gavin|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Vhl, von Hippel-Lindau tumor suppressor|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||Molecular details for this gene targeted allele are unpublished and not available.|
|Mutations Made By|| |
Dr. Brian Gavin, Bristol Myers-Squibb
Heterozygotes are viable and fertile. Homozygous animals are not viable.
When using the VHL- mouse strain in a publication, please cite the originating article(s) and include JAX stock #003123 in your Materials and Methods section.