STOCK Phox2a^tm2.1Jbr/Orl

Status	Available to order
EMMA ID	EM:04758
Citation information	RRID:IMSR_EM:04758 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 Phox2a^tm2.1Jbr/Orl
Alternative name	Phox2alox
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Phox2a^tm2.1Jbr
Gene/Transgene symbol	Phox2a

Information from provider

Provider	Christo Goridis
Provider affiliation	IBENS, Ecole normale superieure
Genetic information	In the Phox2a-lox allele, the second exon of the Phox2a gene is surrounded by loxP sites.
Phenotypic information	Conventional Phox2a null mutants (Neuron 18:411,1997) die at birth. They lack the locus coeruleus and the oculomotor (nIII) and trochlear (nIV) nuclei and have severely atrophic geniculate, petrosal and nodose ganglia. In humans, recessive mutations in Phox2a lead to congenital fibrosis of extraocular muscles type 2. Homozygous Phox2a lox/lox embryos are viable and fertile and have no obvious phenotype. When crossed with phosphoglycerate kinase 1 (Pgk1)-cre deleter mice, the resulting Phox2a lox/lox;Pgk1-cre embryos do not express Phox2a and have the same phenotype as conventional Phox2a null embryos. Introduction of the Islet1-cre allele results in lack of Phox2a expression in nIII, nIV and the cranial ganglia; introduction of the dopamine-beta-hydroxylase (DBH)-cre allele results in lack of Phox2a expression in the locus coeruleus.
Breeding history	Bred to F1 C57BL/6 x DBA/2 for at least 6 generations. Currently bred as homozygotes.
References	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;2066-71; 20133851
Homozygous fertile	yes
Homozygous viable	yes
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	homozygous C57BL/6 x DBA/2 males, wild-type C57BL/6 x DBA/2 females

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Congenital fibrosis of extraocular muscles / Orphanet_45358

MGI phenotypes (gene matching)

hypoglycemia / MGI
decreased motor neuron number / MGI
small superior cervical ganglion / MGI
abnormal parasympathetic ganglion morphology / MGI
abnormal submandibular ganglion morphology / MGI
small submandibular ganglion / MGI
abnormal oculomotor nerve morphology / MGI
abnormal trochlear nerve morphology / MGI
abnormal facial nerve morphology / MGI
abnormal cranial ganglia morphology / MGI
small geniculate ganglion / MGI
small petrosal ganglion / MGI
small nodose ganglion / MGI
small trigeminal ganglion / MGI
decreased body weight / MGI
cyanosis / MGI
postnatal growth retardation / MGI
abnormal respiration / MGI
respiratory distress / MGI
decreased circulating insulin level / MGI
abnormal autonomic nervous system morphology / MGI
increased insulin sensitivity / MGI
no phenotypic analysis / MGI
abnormal gluconeogenesis / MGI
nervous system phenotype / MGI
abnormal locus ceruleus morphology / MGI
lethargy / MGI
improved glucose tolerance / MGI
abnormal glycogen homeostasis / MGI
increased pulmonary respiratory rate / MGI
decreased pulmonary respiratory rate / MGI
increased pulmonary ventilation / MGI
increased tidal volume / MGI
abnormal pterygopalatine ganglion morphology / MGI
abnormal otic ganglion morphology / MGI
increased neuron number / MGI
abnormal neuron differentiation / MGI
abnormal sublingual ganglion morphology / MGI
mortality/aging / MGI
postnatal lethality, complete penetrance / MGI

Literature references

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;2066-71; 20133851
Phox2a Defines a Developmental Origin of the Anterolateral System in Mice and Humans.;Roome R Brian, Bourojeni Farin B, Mona Bishakha, Rastegar-Pouyani Shima, Blain Raphael, Dumouchel Annie, Salesse Charleen, Thompson W Scott, Brookbank Megan, Gitton Yorick, Tessarollo Lino, Goulding Martyn, Johnson Jane E, Kmita Marie, Chédotal Alain, Kania Artur, ;2020;Cell reports;33;108425; 33238113
Genetic evidence of the function of Phox2a-expressing anterolateral system neurons in the transmission of chronic pain.;Zhang Xinying, Millecamps Magali, Kania Artur, ;2023;Molecular pain;19;17448069231170546; 37015885

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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 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

Genotyping protocol

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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STOCK Phox2atm2.1Jbr/Orl