Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Homozygote x Homozygote         (Female x Male)   10-OCT-09 Species laboratory mouse Generation N12+N9F9 (18-JUN-12) Generation Definitions   Donating Investigator Dr. Philippe Soriano,   Mount Sinai School of Medicine

Description
These mice possess loxP sites on either side of exon 1 and exon 4 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When used in conjunction with a Cre recombinase-expressing strain, this strain is useful in generating tissue-specific mutants of the floxed allele.

For example, when bred to a strain expressing Cre recombinase in midbrain/dorsal spinal cord (see Stock No. 007807 or 009107 for example), this mutant mouse strain may be useful in studies of cranial and cardiac neural crest cells.

Development
Exons 1 through 4 are flanked by loxP sites. A PGK-neo cassette was inserted downstream of exon 4. The embryonic stem cell line is not known. The resulting chimeric mice were bred to C57BL/6J mice for 12 generations and then bred to C57BL/6JEi for 9 generations. This targeted mutation strain was developed by Dr. Philippe Soriano at the Fred Hutchinson Cancer Research Center. Dr. Eva Eicher at The Jackson Laboratory obtained the strain from Dr. Soriano and backcrossed the mice to C57BL/6JEi.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Pdgfra

007669	B6.129S4-Pdgfratm11(EGFP)Sor/J
018433	B6.129S4-Pdgfratm12Sor/J
018280	B6N.Cg-Tg(Pdgfra-cre/ERT)467Dbe/J
013148	C57BL/6-Tg(Pdgfra-cre)1Clc/J
018432	STOCK Pdgfratm13Sor/J

View Strains carrying other alleles of Pdgfra     (5 strains)

Additional Web Information

Introduction to Cre-lox technology

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Gastrointestinal Stromal Tumor; GIST   (PDGFRA) Hypereosinophilic Syndrome, Idiopathic; HES   (PDGFRA)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype relates to a compound genotype created using this strain.
Contact JAX^® Services jaxservices@jax.org for customized breeding options.

Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Wnt1-cre)11Rth/0

        Background Not Specified   (conditional)

• mortality/aging
• postnatal lethality   (MGI Ref ID J:81153)
• cardiovascular system phenotype
• abnormal vasculogenesis
  • abnormal origin of the right subclavian artery   (MGI Ref ID J:81153)
• hemorrhage
  • midline hemorrhage   (MGI Ref ID J:81153)
• perimembraneous ventricular septal defect   (MGI Ref ID J:81153)
• persistent truncus arteriosis
  • observed between E17.7-E18.5   (MGI Ref ID J:81153)
• craniofacial phenotype
• abnormal frontal bone morphology
  • phenotype varied in severity; the frontal bones were absent or failed to fuse   (MGI Ref ID J:81153)
• abnormal frontonasal prominence morphology
  • developmental defects appear at E11.5 with a gap in the frontal nasal processes and progresses to hemorrhaging and blebbing by E13.5   (MGI Ref ID J:81153)
• abnormal nasal bone morphology
  • phenotype varied in severity; the nasal bones were absent or failed to fuse   (MGI Ref ID J:81153)
• abnormal nasal capsule morphology
  • phenotype varied in severity; the nasal capsule was absent or failed to fuse   (MGI Ref ID J:81153)
• midline facial cleft
  • phenotype varied in severity due to defects in the nasal capsule and/or frontal and nasal bones   (MGI Ref ID J:81153)
• short snout
  • snouts shortened by 8%   (MGI Ref ID J:81153)
• immune system phenotype
• small thymus
  • observed with very low penetrance (3 out of 32 homozygous mutant embryos)   (MGI Ref ID J:81153)
• skeleton phenotype
• abnormal frontal bone morphology
  • phenotype varied in severity; the frontal bones were absent or failed to fuse   (MGI Ref ID J:81153)
• abnormal nasal bone morphology
  • phenotype varied in severity; the nasal bones were absent or failed to fuse   (MGI Ref ID J:81153)
• abnormal nasal capsule morphology
  • phenotype varied in severity; the nasal capsule was absent or failed to fuse   (MGI Ref ID J:81153)
• hematopoietic system phenotype
• small thymus
  • observed with very low penetrance (3 out of 32 homozygous mutant embryos)   (MGI Ref ID J:81153)
• respiratory system phenotype
• abnormal nasal capsule morphology
  • phenotype varied in severity; the nasal capsule was absent or failed to fuse   (MGI Ref ID J:81153)

Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Wnt1-cre)11Rth/?

        involves: C57BL/6 * CBA   (conditional)

• cardiovascular system phenotype
• abnormal heart development
  • cardiac development is delayed   (MGI Ref ID J:122584)
• persistent truncus arteriosis
  • in 25% of mice   (MGI Ref ID J:122584)
• retroesophageal right subclavian artery
  • in 50% of mice   (MGI Ref ID J:122584)
• ventricular septal defect
  • in 75% of mice   (MGI Ref ID J:122584)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Research Tools
Cre-lox System
      loxP-flanked Sequences

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Pdgfratm8Sor
Allele Name		targeted mutation 8, Philippe Soriano
Allele Type		Targeted (Floxed/Frt)
Common Name(s)		PDGFRalphafl;
Mutation Made By		Eva Eicher,   The Jackson Laboratory
Gene Symbol and Name		Pdgfra, platelet derived growth factor receptor, alpha polypeptide
Chromosome		5
Gene Common Name(s)		AI115593; APDGFR; CD140A; PDGFACE; PDGFR-2; PDGFR2; Pdgfr-2; RHEPDGFRA; expressed sequence AI115593;
Molecular Note		A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. [MGI Ref ID J:81153]

Genotyping

Genotyping Information

Genotyping Protocols

Pdgfra^tm8Sor, Melt Curve Analysis
Pdgfra^tm8Sor, Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Jackson EL; Garcia-Verdugo JM; Gil-Perotin S; Roy M; Quinones-Hinojosa A; VandenBerg S; Alvarez-Buylla A. 2006. PDGFR alpha-positive B cells are neural stem cells in the adult SVZ that form glioma-like growths in response to increased PDGF signaling. Neuron 51(2):187-99. [PubMed: 16846854]  [MGI Ref ID J:115053]

Tallquist MD; Soriano P. 2003. Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells. Development 130(3):507-18. [PubMed: 12490557]  [MGI Ref ID J:81153]

Additional References

Pdgfra^tm8Sor related

Abraham J; Chua YX; Glover JM; Tyner JW; Loriaux MM; Kilcoyne A; Giles FJ; Nelon LD; Carew JS; Ouyang Y; Michalek JE; Pal R; Druker BJ; Rubin BP; Keller C. 2012. An adaptive Src-PDGFRA-Raf axis in rhabdomyosarcoma. Biochem Biophys Res Commun 426(3):363-8. [PubMed: 22960170]  [MGI Ref ID J:190138]

Baek ST; Tallquist MD. 2012. Nf1 limits epicardial derivative expansion by regulating epithelial to mesenchymal transition and proliferation. Development 139(11):2040-9. [PubMed: 22535408]  [MGI Ref ID J:183991]

Bleyl SB; Saijoh Y; Bax NA; Gittenberger-de Groot AC; Wisse LJ; Chapman SC; Hunter J; Shiratori H; Hamada H; Yamada S; Shiota K; Klewer SE; Leppert MF; Schoenwolf GC. 2010. Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet 19(7):1286-301. [PubMed: 20071345]  [MGI Ref ID J:157946]

Chen H; Gu X; Liu Y; Wang J; Wirt SE; Bottino R; Schorle H; Sage J; Kim SK. 2011. PDGF signalling controls age-dependent proliferation in pancreatic beta-cells. Nature 478(7369):349-55. [PubMed: 21993628]  [MGI Ref ID J:177411]

French WJ; Creemers EE; Tallquist MD. 2008. Platelet-derived growth factor receptors direct vascular development independent of vascular smooth muscle cell function. Mol Cell Biol 28(18):5646-57. [PubMed: 18606782]  [MGI Ref ID J:140245]

Greif DM; Kumar M; Lighthouse JK; Hum J; An A; Ding L; Red-Horse K; Espinoza FH; Olson L; Offermanns S; Krasnow MA. 2012. Radial construction of an arterial wall. Dev Cell 23(3):482-93. [PubMed: 22975322]  [MGI Ref ID J:189012]

Kang J; Gu Y; Li P; Johnson BL; Sucov HM; Thomas PS. 2008. PDGF-A as an epicardial mitogen during heart development. Dev Dyn 237(3):692-701. [PubMed: 18297729]  [MGI Ref ID J:131554]

Nakamura Y; Inloes JB; Katagiri T; Kobayashi T. 2011. Chondrocyte-Specific MicroRNA-140 Regulates Endochondral Bone Development and Targets Dnpep To Modulate Bone Morphogenetic Protein Signaling. Mol Cell Biol 31(14):3019-28. [PubMed: 21576357]  [MGI Ref ID J:174096]

Pickett EA; Olsen GS; Tallquist MD. 2008. Disruption of PDGFR{alpha}-initiated PI3K activation and migration of somite derivatives leads to spina bifida. Development 135(3):589-98. [PubMed: 18192285]  [MGI Ref ID J:131172]

Richarte AM; Mead HB; Tallquist MD. 2007. Cooperation between the PDGF receptors in cardiac neural crest cell migration. Dev Biol 306(2):785-96. [PubMed: 17499702]  [MGI Ref ID J:122584]

Schmahl J; Rizzolo K; Soriano P. 2008. The PDGF signaling pathway controls multiple steroid-producing lineages. Genes Dev 22(23):3255-67. [PubMed: 19056881]  [MGI Ref ID J:142042]

Smith CL; Baek ST; Sung CY; Tallquist MD. 2011. Epicardial-derived cell epithelial-to-mesenchymal transition and fate specification require PDGF receptor signaling. Circ Res 108(12):e15-26. [PubMed: 21512159]  [MGI Ref ID J:185693]

Zhou YX; Pannu R; Le TQ; Armstrong RC. 2012. Fibroblast growth factor 1 (FGFR1) modulation regulates repair capacity of oligodendrocyte progenitor cells following chronic demyelination. Neurobiol Dis 45(1):196-205. [PubMed: 21854849]  [MGI Ref ID J:179847]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice can be bred as homozygotes.
Mating System	Homozygote x Homozygote         (Female x Male)   10-OCT-09
Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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