- 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
B6.129S4-Phox2btm1(Phox2a)Mist/Cnrm
Status | Available to order |
EMMA ID | EM:01794 |
International strain name | B6.129S4-Phox2btm1(Phox2a)Mist/Cnrm |
Alternative name | E5 |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Phox2btm1(Phox2a)Mist |
Gene/Transgene symbol | Phox2b |
Information from provider
Provider | Michèle Studer |
Provider affiliation | TIGEM (Telethon Institute of Genetics and Medicine) |
Genetic information | Insertion of Phox2a cDNA into the first exon of the Phox2b locus. |
Phenotypic information | Defects in central and peripheral nervous system. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Haddad syndrome / Orphanet_99803
- Ondine syndrome / Orphanet_661
MGI phenotypes (allele 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
- 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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