Mice homozygous for the null Bmp7 allele die within 48 hours after birth and appear smaller in size when compared to wildtype litter mates. Most display polydactyly in the hindlimbs and exhibit skeletal abnormalities involving the rib cage and skull. Unilateral or bilateral eye defects are present in a majority of the null animals. This defect occurs variably, ranging from a complete absence of eye structures to eyes of normal size. Autopsies on newborn null pups reveal the presence of dysgenic kidneys with hydroureters. Histological examination indicates that homozygous null kidneys possess less than 3 percent of the wildtype number of glomeruli, suggesting that Bmp7 plays a critical role during nephrogenesis. Heterozygous animals appear to display a wildtype phenotype.
A targeting vector containing a hypoxanthine phosphoribosyl transferase gene driven by the mouse phosphoglycerate kinase promoter and a herpes simplex virus thymidine kinase was used to disrupt Bmp7 exons 6 and 7. The construct was transfected into AB2.1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric male animals were backcrossed to C57BL/6J females.
|Allele Name||targeted mutation 1, Gerard Karsenty|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Bmp7-; Bmp7delta; bmp-7m1|
|Gene Symbol and Name||Bmp7, bone morphogenetic protein 7|
|Strain of Origin||129S7/SvEvBrd-Hprtb-m2|
|Molecular Note||An hypoxanthine phosphoribosyl transferase (hprt) minigene replaced a genomic fragment containing exons 6 and 7. These sequences encode the mature domain of the processed polypeptide. Northern blot analysis revealed that no stable transcript was produced from this allele in homozygous mice.|
|Mutations Made By|| |
Gerard Karsenty, Columbia University
This strain originated on a B6;129S7 background and has been backcrossed to C57BL/6 for at least twenty generations. Expected coat color from breeding:Black, Agouti.
When using the BMP-7 KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #003783 in your Materials and Methods section.
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