STOCK Phox2b^tm3.1Jbr/H

Status	Available to order
EMMA ID	EM:11098
Citation information	RRID:IMSR_EM:11098 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	STOCK Phox2b^tm3.1Jbr/H
Alternative name	Phox2b-lox
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Phox2b^tm3.1Jbr
Gene/Transgene symbol	Phox2b

Information from provider

Provider	Simon Ball
Provider affiliation	MRC Harwell
Genetic information	Targeted mutation: knock-in of loxP sites surrounding exon 2 of Phox2b. Original targeting in 129/Sv, then backcrossed with (C57BL/6 x DBA/2)F1 mice for at least 8 generations. The Phox2b lox allele contains a floxed Phox2b locus generating a null allele in the presence of cre recombinase activity (Dubreuil et al J Neurosci 29:14836, 2009). See also Sieber et al J Neurosci 27:4902, 2007 & Coppola et al PNAS 107:2066, 2010)
Phenotypic information	Homozygous: No overt phenotype. However, Phox2b lox/lox;Lbx1 cre/+ mutants have a respiratory deficit probably caused by the lack of retrotrapezoid nucleus (RTN) neurons, but 40% of them survive to adulthood. Heterozygous: Not known
Breeding history	Original targeting in 129/Sv, then backcrossed to (C57BL/6 x DBA/2)F1 mice for at least 8 generations
References	The retrotrapezoid nucleus neurons expressing Atoh1 and Phox2b are essential for the respiratory response to CO₂.;Ruffault Pierre-Louis, D'Autréaux Fabien, Hayes John A, Nomaksteinsky Marc, Autran Sandra, Fujiyama Tomoyuki, Hoshino Mikio, Hägglund Martin, Kiehn Ole, Brunet Jean-François, Fortin Gilles, Goridis Christo, ;2015;eLife;4;2066-71; 25866925 Epibranchial ganglia orchestrate the development of the cranial neurogenic crest.;Coppola Eva, Rallu Murielle, Richard Juliette, Dufour Sylvie, Riethmacher Dieter, Guillemot François, Goridis Christo, Brunet Jean-François, ;2010;Proceedings of the National Academy of Sciences of the United States of America;107;14836-46; 20133851 Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons.;Dubreuil Véronique, Thoby-Brisson Muriel, Rallu Murielle, Persson Karin, Pattyn Alexandre, Birchmeier Carmen, Brunet Jean-François, Fortin Gilles, Goridis Christo, ;2009;The Journal of neuroscience : the official journal of the Society for Neuroscience;29;; 19940179
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6 males, heterozygous C57BL/6 females
Breeding at archiving centre	C57BL/6 background

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Haddad syndrome / Orphanet_99803
Ondine syndrome / Orphanet_661

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

The retrotrapezoid nucleus neurons expressing Atoh1 and Phox2b are essential for the respiratory response to CO₂.;Ruffault Pierre-Louis, D'Autréaux Fabien, Hayes John A, Nomaksteinsky Marc, Autran Sandra, Fujiyama Tomoyuki, Hoshino Mikio, Hägglund Martin, Kiehn Ole, Brunet Jean-François, Fortin Gilles, Goridis Christo, ;2015;eLife;4;2066-71; 25866925
Epibranchial ganglia orchestrate the development of the cranial neurogenic crest.;Coppola Eva, Rallu Murielle, Richard Juliette, Dufour Sylvie, Riethmacher Dieter, Guillemot François, Goridis Christo, Brunet Jean-François, ;2010;Proceedings of the National Academy of Sciences of the United States of America;107;14836-46; 20133851
Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons.;Dubreuil Véronique, Thoby-Brisson Muriel, Rallu Murielle, Persson Karin, Pattyn Alexandre, Birchmeier Carmen, Brunet Jean-François, Fortin Gilles, Goridis Christo, ;2009;The Journal of neuroscience : the official journal of the Society for Neuroscience;29;; 19940179

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STOCK Phox2btm3.1Jbr/H