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Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Heterozygote x F1 (Female x Male) Species laboratory mouse Generation N?+6 (28-MAY-08) Donating Investigator Jonathan Epstein, University of Pennsylvania Description
This strain expresses Cre recombinase from the endogenous Pax3 locus. Expression of the targeted gene product (mRNA and protein) mimics endogenous gene expression as detected by in situ hybridization and immunohistochemistry of homozygous embryos aged E12.5. No endogenous Pax3 gene product (protein) is detected in homozygotes and approximately one half of the endogenous gene product (protein) is detected in heterozygotes by Western blot analysis. Cre recombinase expression is detected in the dorsal neural tube and somites of E9 to 11.5 embryos and in the cardiac neural crest cells and colonic epithelia of E11.5 embryos. Recombination occurs in neural crest and somite derivatives of later gestation embryos. Homozygous mice have an embryonic lethal phenotype, failing to develop past embryonic day 18.5. At age E13.5 homozygous embryos display severe cardiac and neural tube defects (exencephaly), absent limb musculature and reduced or absent dorsal root ganglia. Heterozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Half of the heterozygous mice exhibit a white belly spot. The phenotype exhibited by this mutant strain is similar to the phenotype observed in mice carrying the spontaneous splotch mutant allele of Pax3. This mutant mouse strain represents a model that may be useful in studies of development and lineage mapping of neural crest and somite derivatives.Development
A targeting vector containing Cre coding sequence, a loxP site flanked PGK-neo cassette and a PGK-herpes simplex virus thymidine kinase gene was used to disrupt most of exon 1 including the initiation codon and 69 bp of the 5' flanking region. The endogenous Pax3 promoter drives expression of the Cre recombinase through the in-frame insertion of the Cre coding sequence to the first exon of the Pax3 gene. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice once and are maintained on a mixed B6;129 background.
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 101043 B6129SF1/J | (approximate) | |
| Considerations for Choosing Controls | ||
Strains carrying other alleles of Pax3
000311 B6-Pax3Sp.Cg-N/J 000565 C57BL/6J-Pax3Sp-d/J 002469 C57BL/6J-Pax3Sp/J 002902 STOCK Pax3Sp Mlphln/J View Strains carrying other alleles of Pax3 (4 strains)
Strains carrying other alleles of cre
View Strains carrying other alleles of cre (125 strains)
Cre-lox Systems
Genetic Quality Control Annual Report
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.
Pax3tm1(cre)Joe/Pax3tm1(cre)Joe
Background Not Specified
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:137730)
- despite normal numbers at E17.5, no mice survive beyond P2
- nervous system phenotype
- abnormal neural tube morphology/development (MGI Ref ID J:137730)
- at E13.5, mice exhibit neural tube defects either at the lumbar or cranial level or both
- open neural tube (MGI Ref ID J:137730)
- exencephaly (MGI Ref ID J:137730)
- muscle phenotype
- abnormal diaphragm morphology (MGI Ref ID J:137730)
- at E17.5, the diaphragm is thin and lacks muscle
- limbs/digits/tail phenotype
- abnormal hindlimb morphology (MGI Ref ID J:137730)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
cre relatedDevelopmental Biology Research
Embryonic Lethality (Homozygous)
Internal/Organ Defects (multiple)
Limb Patterning Defects
Neural Tube Defects
Neurobiology Research
Cre-lox System (Cre Recombinase expression in neural tissue)
Neural Tube Defects
Research Tools
Cre-lox System (Cre Recombinase Expression)
Developmental Biology Research (Cre-lox System)
Research Tools
Cre-lox System
Genetics Research (Mutagenesis and Transgenesis: Cre-lox System)
| Allele Symbol | Pax3tm1(cre)Joe | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Jonathan A Epstein | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | Pax3-Cre; Pax3Cre; Pax3Cre-KI; | ||
| Mutation Made By | Kurt Engleka, University of Pennsylvania | ||
| Site of Expression | dorsal neural tube and somites of embryonic day 9-11.5 embryos and in the cardiac neural crest cells and colonic epithelia of embryonic day 11.5 embryos | ||
| Expressed Gene | cre, cre recombinase, bacteriophage P1 | ||
| Cre recombinase is an enzyme derived from the bacteriophage P1 that specifically recognizes loxP sites. Cre has been shown to effectively mediate the excision of DNA located between loxP sites. After the excision event, the DNA ends recombine leaving a single loxP site in place of the intervening sequence. | |||
| Gene Symbol and Name | Pax3, paired box gene 3 | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; Pax-3; Sp; WS1; splotch; | ||
| Molecular Note | A targeting vector was desinged to insert the cre recombinase cDNA followed by a stop codon and a polyA signal in place of exon 1 of the endogenous locus. [MGI Ref ID J:96431] | ||
Genotyping Protocols
Pax3tm1(cre)Joe, SEP PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
Lang D; Lu MM; Huang L; Engleka KA; Zhang M; Chu EY; Lipner S; Skoultchi A; Millar SE; Epstein JA. 2005. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature 433(7028):884-7. [PubMed: 15729346] [MGI Ref ID J:96431]
Pax3tm1(cre)Joe relatedEngleka KA; Gitler AD; Zhang M; Zhou DD; High FA; Epstein JA. 2005. Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives. Dev Biol 280(2):396-406. [PubMed: 15882581] [MGI Ref ID J:98272]
Engleka KA; Wu M; Zhang M; Antonucci NB; Epstein JA. 2007. Menin is required in cranial neural crest for palatogenesis and perinatal viability. Dev Biol 311(2):524-37. [PubMed: 17927973] [MGI Ref ID J:127545]
Haldar M; Hancock JD; Coffin CM; Lessnick SL; Capecchi MR. 2007. A conditional mouse model of synovial sarcoma: insights into a myogenic origin. Cancer Cell 11(4):375-88. [PubMed: 17418413] [MGI Ref ID J:120967]
High FA; Zhang M; Proweller A; Tu L; Parmacek MS; Pear WS; Epstein JA. 2007. An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation. J Clin Invest 117(2):353-363. [PubMed: 17273555] [MGI Ref ID J:118039]
Hori K; Cholewa-Waclaw J; Nakada Y; Glasgow SM; Masui T; Henke RM; Wildner H; Martarelli B; Beres TM; Epstein JA; Magnuson MA; Macdonald RJ; Birchmeier C; Johnson JE. 2008. A nonclassical bHLH Rbpj transcription factor complex is required for specification of GABAergic neurons independent of Notch signaling. Genes Dev 22(2):166-78. [PubMed: 18198335] [MGI Ref ID J:130251]
Ismat FA; Xu J; Lu MM; Epstein JA. 2006. The neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 mice. J Clin Invest 116(9):2378-84. [PubMed: 16906226] [MGI Ref ID J:114455]
Lagha M; Kormish JD; Rocancourt D; Manceau M; Epstein JA; Zaret KS; Relaix F; Buckingham ME. 2008. Pax3 regulation of FGF signaling affects the progression of embryonic progenitor cells into the myogenic program. Genes Dev 22(13):1828-37. [PubMed: 18593883] [MGI Ref ID J:137423]
Stoller JZ; Degenhardt KR; Huang L; Zhou DD; Lu MM; Epstein JA. 2008. Cre reporter mouse expressing a nuclear localized fusion of GFP and beta-galactosidase reveals new derivatives of Pax3-expressing precursors. Genesis 46(4):200-4. [PubMed: 18395835] [MGI Ref ID J:135149]
Tozer S; Bonnin MA; Relaix F; Di Savino S; Garcia-Villalba P; Coumailleau P; Duprez D. 2007. Involvement of vessels and PDGFB in muscle splitting during chick limb development. Development 134(14):2579-91. [PubMed: 17553906] [MGI Ref ID J:122753]
Varadkar P; Kraman M; Despres D; Ma G; Lozier J; McCright B. 2008. Notch2 is required for the proliferation of cardiac neural crest-derived smooth muscle cells. Dev Dyn 237(4):1144-52. [PubMed: 18330927] [MGI Ref ID J:132939]
Vasyutina E; Lenhard DC; Wende H; Erdmann B; Epstein JA; Birchmeier C. 2007. RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells. Proc Natl Acad Sci U S A 104(11):4443-8. [PubMed: 17360543] [MGI Ref ID J:120053]
Wu M; Li J; Engleka KA; Zhou B; Lu MM; Plotkin JB; Epstein JA. 2008. Persistent expression of Pax3 in the neural crest causes cleft palate and defective osteogenesis in mice. J Clin Invest 118(6):2076-87. [PubMed: 18483623] [MGI Ref ID J:137730]
Animal Health Reports
Room Number AX12
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, these mice are bred as heterozygotes. Homozygous mice have an embryonic lethal phenotype, failing to develop past embryonic day 18.5. Mating System Heterozygote x F1 (Female x Male) Diet Information LabDiet® 5K52/5K67
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $236.40 Female or Male Heterozygous for Pax3tm1(cre)Joe *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $253.10 B6129SF1/J (101043) x Heterozygous for Pax3tm1(cre)Joe $253.10 Heterozygous for Pax3tm1(cre)Joe x B6129SF1/J (101043)
| Supply Notes |
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $307.40 Female or Male Heterozygous for Pax3tm1(cre)Joe *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $329.10 B6129SF1/J (101043) x Heterozygous for Pax3tm1(cre)Joe $329.10 Heterozygous for Pax3tm1(cre)Joe x B6129SF1/J (101043)
| Supply Notes |
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| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 101043 B6129SF1/J | (approximate) | |
| 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. | ||
Purchasing Information
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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