Homozygous embryos exhibit purpura, edema, anemia, polychromasia, anisocytosis and abnormal kidney development. Some homozygous embryos do not survive past E18.5. This mutant mouse strain may be useful in studies of hematopoiesis, kidney development and and cellular signaling during development.
Dr. Philippe Soriano, Mount Sinai School of Medicine
One third of homozygous embryos, aged E16 to E18.5, exhibit purpura and edema with some embryos in this group dying at this stage. Homozygous embryos delivered by Caesarean section at E18.5 die within minutes. Homozygotes exhibit anemia, elevated numbers of nucleated erythrocytes, polychromasia, irregularly shaped mature erythrocytes (anisocytosis), and hemorrhaging. Glomerular capillary tufts are absent and the capsule space is filled with blood cells. No gene product (protein) is detected by Western blot analysis of total protein. A truncated transcript presumed to be due to exon skipping is detected by Northern blot analysis. This mutant mouse strain may be useful in studies of hematopoiesis, kidney development and and cellular signaling during development.
A targeting vector containing a PGKneo cassette was used to disrupt 1.8 kb of sequence encoding the signal peptide and the second immunoglobulin domain of the targeted gene.
The construct was electroporated into 129S7/SvEvBrd-Hprt1+
derived AB1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. Heterozygous mice were maintained on a 129S4/SvJaeSor background prior to arrival at The Jackson Laboratory. The mice were then crossed to 129S1/SvImJ (Stock No. 002448) for one generation.
|Allele Name||targeted mutation 1, Philippe Soriano|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||PDGFR-beta-; PDGFRbeta null|
|Gene Symbol and Name||Pdgfrb, platelet derived growth factor receptor, beta polypeptide|
|Strain of Origin||129S7/SvEvBrd-Hprt+|
|Molecular Note||A neomycin resistance cassette replaced 1.8 kb of genomic sequence, which encodes part of the signal peptide and the second immunoglobulin domain. Northern blot analysis detected a shorter transcript in homozygous mutant mice that was presumed to be due to exon skipping. Western blot analysis of total protein failed to detect any encoded protein in homozygous mice.|
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes have a perinatal lethal phenotype.
When using the 129S-Pdgfrbtm1Sor/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #007846 in your Materials and Methods section.