B6.129P2(C)-Pax3tm1Buck/Orl

Status

Available to order

EMMA IDEM:05745
Citation informationRRID:IMSR_EM:05745 

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International strain nameB6.129P2(C)-Pax3tm1Buck/Orl
Alternative nameB6.Pax3ILZ/+
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolPax3tm1Buck
Gene/Transgene symbolPax3

Information from provider

ProviderFrederic RELAIX
Provider affiliationGroupe Myologie, UMR-S 787 - INSERM - UPMC-Paris VI - Institut de Myologie
Genetic informationThe IRES-lacZ DNA has been inserted into Pax3 locus (exon 2). The beta galactosidase follows the Pax3 gene expression. LoxP flanked cassette has been removed: one loxP site remains in the genome.
Phenotypic informationHeterozygous mice are viable with belly spot and homozygous mice are not viable.
Breeding historyHomozygotes are not viable: homozygous embryo dye at E14,5. Homozygous loss-of-function mutation result in mid-gestation lethality with defects in myogenesis, neural tube closure and neural crest-derived lineages including melanocytes, Schwann cells and insufficient mesenchymal cells to septate the cardiac outflow tract. Heterozygous males are crossed to C57BL/6 females. The line has been backcrossed to C57BL/6 background for at least 5 generations.
References
  • Divergent functions of murine Pax3 and Pax7 in limb muscle development.;Relaix Frédéric, Rocancourt Didier, Mansouri Ahmed, Buckingham Margaret, ;2004;Genes & development;18;1088-105; 15132998
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France
Animals used for archivingheterozygous C57BL/6J males, wild-type C57BL/6J females
Breeding at archiving centreHomozygous non viable
Stage of embryos2-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • belly spot / MGI
  • abnormal myogenesis / MGI
  • exencephaly / MGI
  • open neural tube / MGI
  • abnormal neural crest cell migration / MGI
  • abnormal dermomyotome development / MGI
  • absent dorsal root ganglion / MGI
  • prenatal lethality, complete penetrance / MGI
  • abnormal muscle development / MGI
  • abnormal myotome development / MGI
  • abnormal dorsal root ganglion morphology / MGI
  • abnormal somite development / MGI
  • abnormal neural tube morphology / MGI
  • spina bifida / MGI
  • abnormal muscle precursor cell migration / MGI
  • abnormal mammary line morphology / MGI
  • abnormal mammary placode morphology / MGI
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

  • Divergent functions of murine Pax3 and Pax7 in limb muscle development.;Relaix Frédéric, Rocancourt Didier, Mansouri Ahmed, Buckingham Margaret, ;2004;Genes & development;18;1088-105; 15132998

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Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

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