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Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6J Generation N12+ Donating Investigator Thomas Doetschman, Univ of Cincinnati College of Medicine Description
Mice homozygous for the Tgfb3tm1Doe mutation are not viable. Mice exhibit cleft palate and possibly developmental defects in the lung.
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Congenic Nomenclature
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Tgfb3tm1Doe/Tgfb3tm1Doe
either: (involves: 129/Sv * 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CF1)
- lethality-prenatal/perinatal
- neonatal lethality (MGI Ref ID J:29901)
- all homozygotes die within 24 hrs after birth
- no homozygotes are recovered at 3 weeks of age, independent of genetic background
- behavior/neurological phenotype
- abnormal suckling behavior (MGI Ref ID J:29901)
- homozygous mutant pups fail to suckle, as shown by absence of milk in their stomachs
- craniofacial phenotype
- cleft palate (MGI Ref ID J:29901)
- newborn homozygotes show a cleft palate phenotype of variable severity and type (anterior vs posterior) that is most severe on a C57BL/6-enriched background
- failure of palatal shelves to fuse appears to result from impaired adhesion of the apposing medial edge epithelia and subsequent loss of the mid-line epithelial seam
- no associated cleft lip or gross abnormalities in cartilage, bone, brain, heart or other craniofacial structures (e.g. mandible) are observed
- on a 129P2/OlaHsd x C57BL/6 background, 46.7% of homozygotes exhibit a complete cleft palate while 53.3% display only a posterior cleft
- on a 129P2/OlaHsd x CF1 background, 89.3% homozygotes show a posterior cleft palate, 8.7% show anterior clefts (i.e. failure of fusion of primary and secondary palates), and ~2% exhibit complete clefts
- on a 129/Sv x 129P2/OlaHsd background, all homozygotes show only a posterior cleft palate
- homeostasis/metabolism phenotype
- cyanosis (MGI Ref ID J:29901)
- newborn pups become cyanotic shortly after birth
- dehydration (MGI Ref ID J:29901)
- newborn pups become dehydrated shortly after birth
- respiratory system phenotype
- abnormal respiratory conducting tube (MGI Ref ID J:29901)
- newborn homozygotes display an abnormal terminal airway system
- respiratory distress (MGI Ref ID J:29901)
- newborn pups exhibit gasping at ~4 hrs after birth
- digestive/alimentary phenotype
- cleft palate (MGI Ref ID J:29901)
- newborn homozygotes show a cleft palate phenotype of variable severity and type (anterior vs posterior) that is most severe on a C57BL/6-enriched background
- failure of palatal shelves to fuse appears to result from impaired adhesion of the apposing medial edge epithelia and subsequent loss of the mid-line epithelial seam
- no associated cleft lip or gross abnormalities in cartilage, bone, brain, heart or other craniofacial structures (e.g. mandible) are observed
- on a 129P2/OlaHsd x C57BL/6 background, 46.7% of homozygotes exhibit a complete cleft palate while 53.3% display only a posterior cleft
- on a 129P2/OlaHsd x CF1 background, 89.3% homozygotes show a posterior cleft palate, 8.7% show anterior clefts (i.e. failure of fusion of primary and secondary palates), and ~2% exhibit complete clefts
- on a 129/Sv x 129P2/OlaHsd background, all homozygotes show only a posterior cleft palate
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Tgfb3tm1Doe related
Cancer Research
Growth Factors/Receptors/Cytokines
Developmental Biology Research
Craniofacial and Palate Defects (cleft palate)
Immunology and Inflammation Research
Growth Factors/Receptors/Cytokines
Inflammation
Internal/Organ Research
Lung Defects
| Allele Symbol | Tgfb3tm1Doe | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Thomas Doetschman | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | TGF-beta3 null; | ||
| Mutation Made By | Thomas Doetschman, Univ of Cincinnati College of Medicine | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14.1 | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Gene Symbol and Name | Tgfb3, transforming growth factor, beta 3 | ||
| Chromosome | 12 | ||
| Gene Common Name(s) | ARVD; FLJ16571; MGC105479; TGF-beta3; Tgfb-3; | ||
| Molecular Note | A neomycin resistance cassette replaced exon 6, which encodes the active domain of the protein. RT-PCR analysis of RNA derived from whole E11.5 or E15.5 embryos did not detect any transcript produced from this allele in homozygous mice. [MGI Ref ID J:29901] | ||
Genotyping Protocols
NEOTD (Generic Neo), STD PCR, vers. 1
Tgfb3tm1Doe, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
Proetzel G; Pawlowski SA; Wiles MV; Yin M; Boivin GP; Howles PN; Ding J; Ferguson MW; Doetschman T. 1995. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 11(4):409-14. [PubMed: 7493021] [MGI Ref ID J:29901]
Cui XM; Chai Y; Chen J; Yamamoto T; Ito Y; Bringas P; Shuler CF. 2003. TGF-beta3-dependent SMAD2 phosphorylation and inhibition of MEE proliferation during palatal fusion. Dev Dyn 227(3):387-94. [PubMed: 12815624] [MGI Ref ID J:84447]
Martinez-Alvarez C; Blanco MJ; Perez R; Rabadan MA; Aparicio M; Resel E; Martinez T; Nieto MA. 2004. Snail family members and cell survival in physiological and pathological cleft palates. Dev Biol 265(1):207-18. [PubMed: 14697364] [MGI Ref ID J:87413]
Taya Y; O'Kane S; Ferguson MW. 1999. Pathogenesis of cleft palate in TGF-beta3 knockout mice. Development 126(17):3869-79. [PubMed: 10433915] [MGI Ref ID J:56561]
Tgfb3tm1Doe relatedCui XM; Shiomi N; Chen J; Saito T; Yamamoto T; Ito Y; Bringas P; Chai Y; Shuler CF. 2005. Overexpression of Smad2 in Tgf-beta3-null mutant mice rescues cleft palate. Dev Biol 278(1):193-202. [PubMed: 15649471] [MGI Ref ID J:96461]
Dunker N; Krieglstein K. 2003. Reduced programmed cell death in the retina and defects in lens and cornea of Tgfbeta2(-/-) Tgfbeta3(-/-) double-deficient mice. Cell Tissue Res 313(1):1-10. [PubMed: 12838410] [MGI Ref ID J:105113]
Dunker N; Schmitt K; Krieglstein K. 2002. TGF-beta is required for programmed cell death in interdigital webs of the developing mouse limb. Mech Dev 113(2):111-20. [PubMed: 11960699] [MGI Ref ID J:76541]
Dunker N; Schmitt K; Schuster N; Krieglstein K. 2002. The role of transforming growth factor beta-2, beta-3 in mediating apoptosis in the murine intestinal mucosa. Gastroenterology 122(5):1364-75. [PubMed: 11984523] [MGI Ref ID J:76342]
Foitzik K; Paus R; Doetschman T; Dotto GP. 1999. The TGF-beta2 isoform is both a required and sufficient inducer of murine hair follicle morphogenesis. Dev Biol 212(2):278-89. [PubMed: 10433821] [MGI Ref ID J:56937]
Letterio JJ; Bottinger EP. 1998. TGF-beta knockout and dominant-negative receptor transgenic mice. Miner Electrolyte Metab 24(2-3):161-7. [PubMed: 9525700] [MGI Ref ID J:46776]
Li J; Foitzik K; Calautti E; Baden H; Doetschman T; Dotto GP. 1999. TGF-beta3, but not TGF-beta1, protects keratinocytes against 12-O-tetradecanoylphorbol-13-acetate-induced cell death in vitro and in vivo. J Biol Chem 274(7):4213-9. [PubMed: 9933619] [MGI Ref ID J:115227]
Martinez-Alvarez C; Blanco MJ; Perez R; Rabadan MA; Aparicio M; Resel E; Martinez T; Nieto MA. 2004. Snail family members and cell survival in physiological and pathological cleft palates. Dev Biol 265(1):207-18. [PubMed: 14697364] [MGI Ref ID J:87413]
Martinez-Sanz E; Del Rio A; Barrio C; Murillo J; Maldonado E; Garcillan B; Amoros M; Fuerte T; Fernandez A; Trinidad E; Rabadan MA; Lopez Y; Martinez ML; Martinez-Alvarez C. 2008. Alteration of medial-edge epithelium cell adhesion in two Tgf-beta3 null mouse strains. Differentiation 76(4):417-30. [PubMed: 18431835] [MGI Ref ID J:133954]
Mecha M; Rabadan MA; Pena-Melian A; Valencia M; Mondejar T; Blanco MJ. 2008. Expression of TGF-betas in the embryonic nervous system: analysis of interbalance between isoforms. Dev Dyn 237(6):1709-17. [PubMed: 18498095] [MGI Ref ID J:136358]
Mu Z; Yang Z; Yu D; Zhao Z; Munger JS. 2008. TGFbeta1 and TGFbeta3 are partially redundant effectors in brain vascular morphogenesis. Mech Dev 125(5-6):508-16. [PubMed: 18343643] [MGI Ref ID J:136106]
Saika S; Saika S; Liu CY; Azhar M; Sanford LP; Doetschman T; Gendron RL; Kao CW; Kao WW. 2001. TGFbeta2 in corneal morphogenesis during mouse embryonic development. Dev Biol 240(2):419-32. [PubMed: 11784073] [MGI Ref ID J:73681]
Sasaki Y; O'kane S; Dixon J; Dixon MJ; Ferguson MW. 2007. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Arch Oral Biol 52(3):260-7. [PubMed: 17097601] [MGI Ref ID J:117758]
Taya Y; O'Kane S; Ferguson MW. 1999. Pathogenesis of cleft palate in TGF-beta3 knockout mice. Development 126(17):3869-79. [PubMed: 10433915] [MGI Ref ID J:56561]
Tesseur I; Wyss-Coray T. 2006. A role for TGF-beta signaling in neurodegeneration: evidence from genetically engineered models. Curr Alzheimer Res 3(5):505-13. [PubMed: 17168649] [MGI Ref ID J:125213]
Tudela C; Formoso MA; Martinez T; Perez R; Aparicio M; Maestro C; Del Rio A; Martinez E; Ferguson M; Martinez-Alvarez C. 2002. TGF-beta3 is required for the adhesion and intercalation of medial edge epithelial cells during palate fusion. Int J Dev Biol 46(3):333-6. [PubMed: 12068957] [MGI Ref ID J:80255]
Xu X; Han J; Ito Y; Bringas P Jr; Deng C; Chai Y. 2008. Ectodermal Smad4 and p38 MAPK are functionally redundant in mediating TGF-beta/BMP signaling during tooth and palate development. Dev Cell 15(2):322-9. [PubMed: 18694570] [MGI Ref ID J:140401]
Zhang J; Pho V; Bonasera SJ; Holtzman J; Tang AT; Hellmuth J; Tang S; Janak PH; Tecott LH; Huang EJ. 2007. Essential function of HIPK2 in TGFbeta-dependent survival of midbrain dopamine neurons. Nat Neurosci 10(1):77-86. [PubMed: 17159989] [MGI Ref ID J:117465]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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