129S-Pdgfrb^tm1Sor/J

Stock number: 007846
Research areas: Developmental Biology Research, Hematological Research

Description

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.

Detailed description

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.

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

Symbol: Pdgfrb^tm1Sor
Name: targeted mutation 1, Philippe Soriano
MGI accession ID: MGI:2135508
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Pdgfrb
Marker name: platelet derived growth factor receptor, beta polypeptide
Chromosome: 18
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.