MGI phenotypes (allele matching)
- belly spot / MGI
B6.129S2-Pax3tm2(PAX3/FOXO1A)Buck/Orl
| Status | Available to order |
| EMMA ID | EM:05736 |
| Citation information | RRID:IMSR_EM:05736 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-Pax3tm2(PAX3/FOXO1A)Buck/Orl |
| Alternative name | B6.Pax3FKHR |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Pax3tm2(PAX3/FOXO1A)Buck |
| 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 fusion between PAX3 and FKHR (FOXO1A) has been introduced in the Pax3 locus. The Pax3PAX3-FKHR-IRESnLacZ targeting vector contained 2.4 kb of 5' genomic region, replacing the coding sequence of exon 1, up to the BamHI site, 20 bp 3' of the splice donor site of exon 1, to remove any possibility of translational reinitiation, and 4 kb of 3' sequence containing exons 2-4. In addition, a PGK-DTA cassette encoding the A subunit of the diphtheria toxin gene (Meilhac et al. 2003) was inserted 5' of the constructs to allow for negative selection in ES cells. The Pax3IRESnLacZ targeting vector was electroporated into HM-1 ES cells according to Meilhac et al. (2003), and the Pax3PAX3-FKHR-IRESnLacZ targeting vector was electroporated into CK35 ES cells (Kress et al. 1998). |
| Phenotypic information | The Pax3(PAX3-FKHR)/+ adult mice are viable and fertile and present the pigmentation phenotype of Pax3 heterozygous mice. The Pax3-PAX3-FKHR/+ mice are not viable and display muscle, neural tube and neural crest cells defects (see publication). |
| Breeding history | Heterozygotes are not viable. The conditional heterozygous male are crossed with C57BL/6 females. The line has been backcrossed on C57BL/6 background for at least 10 generations. |
| References |
|
| 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
- The transcriptional activator PAX3-FKHR rescues the defects of Pax3 mutant mice but induces a myogenic gain-of-function phenotype with ligand-independent activation of Met signaling in vivo.;Relaix Frédéric, Polimeni Mariarosa, Rocancourt Didier, Ponzetto Carola, Schäfer Beat W, Buckingham Margaret, ;2003;Genes & development;17;2950-65; 14665670