MGI phenotypes (allele matching)
- belly spot / MGI
B6.129S2-Pax3tm5Buck/Orl
| Status | Available to order |
| EMMA ID | EM:05735 |
| Citation information | RRID:IMSR_EM:05735 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-Pax3tm5Buck/Orl |
| Alternative name | B6.Pax3ERD/+ or B6.Pax3_Pax3-En-IRESnlacZ/+ |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Pax3tm5Buck |
| 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 genomic sequences surround a floxed GFP-FRT-Puro cassette followed by a Pax3-En fusion sequence, which encodes mouse Pax3, amino acids 1-374, fused with Drosophila Engrailed, amino acids 1-298. This is followed by an IRESnlacZpA sequence with an FRT site inserted between the nlacZ and the pA sequence (into the XbaI site of the pSKTnlacZ plasmid). In addition, a PGK-DTA cassette encoding the A subunit of the diphtheria toxin gene was inserted 5' of the constructs to allow negative selection in embryonic stem (ES) cells. The allele of Pax3 encoding a Pax3-engrailed fusion protein acts as a transcriptional repressor. |
| Phenotypic information | The heterozygous mice present a white belly spot. Homozygotes are not viable. Crossing with a Cre line leads to the expression of Pax3-En - Heterozygous embryos expressing the Pax3-En repressor have a hypomorph-like phenotype - Expression of Myf5 is reduced in the hypaxial dermomyotome of Pax3_Pax3-En-IRESnlacZ/+ embryos - Spina bifida is observed more frequently than in the Pax3 null mice - In the presence of Pax3-En, the full hypaxial extent of the dermomyotome is somewhat reduced, and the epithelial structure is compromised. |
| 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 |
|
| 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 |
| Breeding at archiving centre | Homozygous non viable |
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
- A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb.;Bajard Lola, Relaix Frédéric, Lagha Mounia, Rocancourt Didier, Daubas Philippe, Buckingham Margaret E, ;2006;Genes & development;20;2450-64; 16951257