B6.129S4-Phox2btm1(Phox2a)Mist/Cnrm

Status

Available to order

EMMA IDEM:01794
Citation informationRRID:IMSR_EM:01794 

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International strain nameB6.129S4-Phox2btm1(Phox2a)Mist/Cnrm
Alternative nameE5
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolPhox2btm1(Phox2a)Mist
Gene/Transgene symbolPhox2b

Information from provider

ProviderMichèle Studer
Provider affiliationTIGEM (Telethon Institute of Genetics and Medicine)
Genetic informationInsertion of Phox2a cDNA into the first exon of the Phox2b locus.
Phenotypic informationDefects in central and peripheral nervous system.
References
  • Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation.;Coppola Eva, Pattyn Alexandre, Guthrie Sarah C, Goridis Christo, Studer Michèle, ;2005;The EMBO journal;24;4392-403; 16319924

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • small facial motor nucleus / MGI
  • abnormal motor neuron morphology / MGI
  • abnormal parasympathetic ganglion morphology / MGI
  • abnormal enteric nervous system morphology / MGI
  • abnormal cranial ganglia morphology / MGI
  • small trigeminal ganglion / MGI
  • abnormal vagus ganglion morphology / MGI
  • abnormal cardiovascular system morphology / MGI
  • abnormal nervous system morphology / MGI
  • abnormal locus ceruleus morphology / MGI
  • abnormal noradrenaline level / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
MGI phenotypes (gene matching)
  • vasculature congestion / MGI
  • abnormal medulla oblongata morphology / MGI
  • small facial motor nucleus / MGI
  • abnormal motor neuron morphology / MGI
  • abnormal sympathetic ganglion morphology / MGI
  • abnormal parasympathetic ganglion morphology / MGI
  • abnormal enteric nervous system morphology / MGI
  • abnormal enteric ganglia morphology / MGI
  • abnormal cranial nerve morphology / MGI
  • absent trigeminal nerve / MGI
  • abnormal vagus nerve morphology / MGI
  • abnormal cranial ganglia morphology / MGI
  • abnormal geniculate ganglion morphology / MGI
  • abnormal petrosal ganglion morphology / MGI
  • abnormal nodose ganglion morphology / MGI
  • small trigeminal ganglion / MGI
  • abnormal glossopharyngeal ganglion morphology / MGI
  • abnormal vagus ganglion morphology / MGI
  • cyanosis / MGI
  • abnormal lung volume / MGI
  • abnormal respiration / MGI
  • abnormal breathing pattern / MGI
  • respiratory failure / MGI
  • apnea / MGI
  • postnatal lethality / MGI
  • abnormal eye morphology / MGI
  • abnormal cardiovascular system morphology / MGI
  • no abnormal phenotype detected / MGI
  • hypoventilation / MGI
  • abnormal respiratory function / MGI
  • abnormal pulmonary ventilation / MGI
  • mydriasis / MGI
  • abnormal autonomic nervous system morphology / MGI
  • abnormal carotid body morphology / MGI
  • abnormal nervous system morphology / MGI
  • abnormal glial cell morphology / MGI
  • abnormal locus ceruleus morphology / MGI
  • abnormal noradrenaline level / MGI
  • abnormal brain interneuron morphology / MGI
  • abnormal area postrema morphology / MGI
  • absent facial nerve / MGI
  • abnormal neuron physiology / MGI
  • abnormal neuronal precursor proliferation / MGI
  • decreased neuronal precursor cell number / MGI
  • abnormal ciliary ganglion morphology / MGI
  • decreased pulmonary ventilation / MGI
  • impaired pupillary reflex / MGI
  • neonatal lethality, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • abnormal retrotrapezoid nucleus morphology / MGI
  • impaired neuron differentiation / MGI
  • decreased enteric neural crest cell number / MGI
  • decreased enteric neural crest cell proliferation / MGI
  • abnormal enteric neural crest cell migration / MGI

Literature references

  • Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation.;Coppola Eva, Pattyn Alexandre, Guthrie Sarah C, Goridis Christo, Studer Michèle, ;2005;The EMBO journal;24;4392-403; 16319924

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Order

Availabilities

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*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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