MGI phenotypes (allele matching)
B6.129S2(Cg)-Pax3tm6.2Buck/Orl
| Status | Available to order |
| EMMA ID | EM:05740 |
| Citation information | RRID:IMSR_EM:05740 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129S2(Cg)-Pax3tm6.2Buck/Orl |
| Alternative name | B6.Pax3EGFP8/+ |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Pax3tm6.2Buck |
| Gene/Transgene symbol | Pax3 |
Information from provider
| Provider | Frederic RELAIX |
| Provider affiliation | Groupe Myologie, UMR-S 787 - INSERM - UPMC-Paris VI - Institut de Myologie |
| Additional owner | Margaret Buckingham, Molecular Genetics of Development (URA CNRS 2578), Institut Pasteur, Paris, France |
| Genetic information | The Pax3EGFP(Pax8-IRESnlacZ) allele contains 2.4 kb of the 5' genomic region of Pax3, but lacks the coding sequence of exon 1, and 4 kb of the 3' sequence which contains exons 2-4. The genomic sequence is surrounded by a floxed GFP-FRT-Puromycin cassette followed by 2.5 kb of mouse Pax8 cDNA (Genbank accession number: BF781092), then an IRES-nLacZ cassette followed by an FRT site. In addition, a PGK-DTA cassette encoding the A subunit of the Diphtheria toxin gene (Meilhac et al. 2003) was inserted at the 5' end of the constructs to allow negative selection in embryonic stem (ES) cells. The Pax3EGFP(Pax8-ILZ) allele was crossed with a transgenic line driving ubiquitous expression of the Flipase recombination enzyme (Rodriguez et al. 2000) to generate the Pax3EGP8 allele. |
| Phenotypic information | The heterozygous mice are viable, fertile and present a white belly spot. Homozygotes are not viable: homozygous embryos dye at E14,5. Homozygous embryos show Pax3-mutant defects (such as failure of neural tube closure, deficient NCC migration, lack of dorsal root ganglia, and limb muscles). The double homozygotes are not viable: homozygous embryo die at birth. |
| Breeding history | Heterozygotes are viable and fertile. Homozygotes are not viable. Heterozygous males are crossed with C57BL/6 females. The line has been backcrossed on C57BL/6 background for at least 5 generations. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Craniofacial-deafness-hand syndrome / Orphanet_1529
- Waardenburg syndrome type 1 / Orphanet_894
- Waardenburg syndrome type 3 / Orphanet_896
MGI phenotypes (gene matching)
- thin ventricular wall / MGI
- abnormal interventricular septum morphology / MGI
- double outlet right ventricle / MGI
- decreased cell proliferation / MGI
- diluted coat color / MGI
- belly spot / MGI
- abnormal hindlimb morphology / MGI
- kinked tail / MGI
- abnormal thyroid gland morphology / MGI
- abnormal thymus morphology / MGI
- abnormal myogenesis / MGI
- abnormal muscle development / MGI
- abnormal myotome development / MGI
- abnormal skeletal muscle morphology / MGI
- thin diaphragm muscle / MGI
- abnormal brain ventricle morphology / MGI
- abnormal lateral ventricle morphology / MGI
- abnormal hindbrain morphology / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- open neural tube / MGI
- small embryonic telencephalon / MGI
- abnormal spinal cord morphology / MGI
- abnormal dorsal root ganglion morphology / MGI
- disorganized dorsal root ganglion / MGI
- absent skin pigmentation / MGI
- decreased body size / MGI
- cyanosis / MGI
- abnormal somite development / MGI
- failure to gastrulate / MGI
- decreased embryo size / MGI
- respiratory distress / MGI
- neoplasm / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal limb morphology / MGI
- abnormal tail morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal thymus lobule morphology / MGI
- abnormal semicircular canal morphology / MGI
- delayed neural tube closure / MGI
- persistent truncus arteriosis / MGI
- abnormal pharyngeal arch artery morphology / MGI
- dilated heart left ventricle / MGI
- dilated heart right ventricle / MGI
- white spotting / MGI
- head spot / MGI
- variable body spotting / MGI
- abnormal neural crest cell migration / MGI
- small thyroid gland / MGI
- ectopic thymus / MGI
- no phenotypic analysis / MGI
- curly tail / MGI
- spina bifida / MGI
- abnormal muscle precursor cell migration / MGI
- decreased cochlear coiling / MGI
- nervous system phenotype / MGI
- abnormal midbrain development / MGI
- abnormal tongue muscle morphology / MGI
- retroesophageal right subclavian artery / MGI
- abnormal dermomyotome development / MGI
- abnormal myocardial fiber physiology / MGI
- abnormal bony labyrinth / MGI
- increased mitotic index / MGI
- abnormal neural fold elevation formation / MGI
- absent skeletal muscle / MGI
- absent ultimobranchial body / MGI
- absent coat pigmentation / MGI
- absent thyroid gland / MGI
- hearing/vestibular/ear phenotype / MGI
- embryo phenotype / MGI
- cardiovascular system phenotype / MGI
- vision/eye phenotype / MGI
- hypopigmentation / MGI
- decreased ventricle muscle contractility / MGI
- abnormal endolymphatic duct morphology / MGI
- abnormal otic vesicle development / MGI
- abnormal vena cava morphology / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal utricle morphology / MGI
- abnormal cardiac outflow tract development / MGI
- congestive heart failure / MGI
- absent hypaxial muscle / MGI
- abnormal sixth pharyngeal arch artery morphology / MGI
- short endolymphatic duct / MGI
- abnormal ventral coat pigmentation / MGI
- absent dorsal root ganglion / MGI
- embryonic lethality / MGI
- caudal rachischisis / MGI
- abnormal tail hair pigmentation / MGI
- abnormal hind foot hair pigmentation / MGI
- variable depigmentation / MGI
- transverse fur striping / MGI
- ventricular septal defect / MGI
- muscular ventricular septal defect / MGI
- persistent right dorsal aorta / MGI
- common truncal valve / MGI
- patent tricuspid valve / MGI
- dilated pulmonary trunk / MGI
- thick interventricular septum / MGI
- integument phenotype / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased tail pigmentation / MGI
- abnormal diaphragm development / MGI
- spina bifida cystica / MGI
- increased embryonic neuroepithelium apoptosis / MGI
- abnormal common carotid artery morphology / MGI
- abnormal mammary line morphology / MGI
- abnormal mammary placode morphology / MGI
- abnormal embryo morphology / MGI
- abnormal hypoglossal cord morphology / MGI
Literature references
- Lack of in vivo functional compensation between Pax family groups II and III in rodents.;Hayashi Shinichiro, Rocancourt Didier, Buckingham Margaret, Relaix Frederic, ;2011;Molecular biology and evolution;28;2787-98; 21512107