Both male and female homozygous Bpnt1 (bisphosphate 3'-nucleotidase 1) targeted mutation mice develop lethal full body edema with 45% penetrance. Mice develop severe liver pathologies resulting in poor viability during adolescence. This strain may be useful in studies of liver disease.
John York, Duke University Medical Center
Both male and female homozygous Bpnt1 (bisphosphate 3'-nucleotidase 1) targeted mutation mice develop lethal full body edema with 45% penetrance. The onset of edema is typically between 40 and 60 days. Following the development of edema, mice have been observed to live up to a week. Mice develop severe liver pathologies resulting in poor viability during adolescence. Western blots of liver, kidney, and brain using polyclonal antibodies raised against full-length protein indicate that no protein is expressed in homozygous animals. None of the examined phenotypes differ between the C57BL/6 (Stock No. 012920) and this mixed C57BL/6-129 genetic background. There is no detectable mRNA in liver. This strain may be useful in studies of liver disease.
Exons 4-6 were replaced by a neomycin resistance cassette in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. This strain (founder line 381) was backcrossed once to C57BL/6 by the donating laboratory.
|Allele Name||targeted mutation 1, John D York|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||BPN (founder 381)|
|Gene Symbol and Name||Bpnt1, bisphosphate 3'-nucleotidase 1|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||Exons 4 and 5 were replaced by a neomycin resistance cassette. Western blot analysis of soluble protein extracts demonstrated the absence of protein product.|
|Mutations Made By|| |
John York, Duke University Medical Center
When maintained as a live colony, heterozygotes may be bred. Many homozygotes die during adolescence due to severe liver pathologies.
When using the B6;129-Bpnt1tm1Yrk/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #012919 in your Materials and Methods section.
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