STOCK Phox2btm4Jbr/Orl

Status

Available to order

EMMA IDEM:07453
Citation informationRRID:IMSR_EM:07453 

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 nameSTOCK Phox2btm4Jbr/Orl
Alternative namePhox2b27Alacki
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolPhox2btm4Jbr
Gene/Transgene symbolPhox2b

Information from provider

ProviderChristo Goridis
Provider affiliationIBENS, Ecole normale superieure
Genetic informationThe normal mouse exon 3 of the Phox2b gene was flanked with loxP sites. Downstream of the polyA addition site, the human PHOX2B exon 3 bearing the expansion by 7 residues of the 20-residue polyalanine stretch that causes congenital central hypoventilation syndrome in man was inserted. The construct was injected into 129S2/SvPas ES cells.
Phenotypic informationIn Phox2b27Alacki mice, the Phox2b27Ala allele that causes congenital central hypoventilation syndrome in man is expressed conditionally upon prior action of Cre recombinase. In the absence of Cre, homozygous Phox2b27Alacki/27Alacki mice are viable and fertile. Pgk::cre; Phox2b27Alacki/+ mice, in which recombination occurs in the germ line, die at birth from respiratory failure as do constitutive Phox2b27Alacki/+ mutants. Thus, the unrecombined Phox2b27Alacki allele is functionally equivalent to the wild-type allele and the recombined allele to the constitutive Phox2b27Alacki allele. When partnered with a suitable Cre driver, expression of the mutant allele can be directed to a subset of Phox2b-expressing cells. In Egr2cre;Phox2b27Alacki mice, the chemosensitive neurons of the retrotrapezoid nucleus are selectively depleted providing a means for studying their k in the control.
Breeding historyOutcrossed for at least 10 generations.
References
  • Breathing without CO(2) chemosensitivity in conditional Phox2b mutants.;Ramanantsoa Nelina, Hirsch Marie-Rose, Thoby-Brisson Muriel, Dubreuil Véronique, Bouvier Julien, Ruffault Pierre-Louis, Matrot Boris, Fortin Gilles, Brunet Jean-François, Gallego Jorge, Goridis Christo, ;2011;The Journal of neuroscience : the official journal of the Society for Neuroscience;31;12880-8; 21900566
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France
Animals used for archivingheterozygous C57BL/6 x DBA/2 males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

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

  • Breathing without CO(2) chemosensitivity in conditional Phox2b mutants.;Ramanantsoa Nelina, Hirsch Marie-Rose, Thoby-Brisson Muriel, Dubreuil Véronique, Bouvier Julien, Ruffault Pierre-Louis, Matrot Boris, Fortin Gilles, Brunet Jean-François, Gallego Jorge, Goridis Christo, ;2011;The Journal of neuroscience : the official journal of the Society for Neuroscience;31;12880-8; 21900566

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Availabilities

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

  • Frozen sperm. 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.

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
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