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Symbol
Name
ID
Phox2b
paired-like homeobox 2b
MGI:1100882
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Aganglionic megacolon
Horner syndrome
Ganglioneuroma
Spinal cord compression
Neoplasm of the central nervous system
Neuroblastoma
Ganglioneuroblastoma
Neoplasm of the nervous system
Ataxia
Myoclonus
Irritability
Cognitive impairment
Antalgic gait
Seizure
Abnormality of the autonomic nervous system
Abnormal autonomic nervous system physiology
Disease(s) Associated with PHOX2B
congenital central hypoventilation syndrome
neuroblastoma

Mouse Phenotypes
nervous system phenotype
abnormal neuron differentiation
impaired neuron differentiation
abnormal neuronal precursor proliferation
decreased enteric neural crest cell number
abnormal nervous system morphology
abnormal autonomic nervous system morphology
abnormal enteric nervous system morphology
abnormal enteric ganglia morphology
abnormal parasympathetic ganglion morphology
abnormal ciliary ganglion morphology
abnormal pterygopalatine ganglion morphology
abnormal sympathetic ganglion morphology
abnormal brain interneuron morphology
abnormal area postrema morphology
abnormal medulla oblongata morphology
abnormal retrotrapezoid nucleus morphology
abnormal trigeminal V mesencephalic nucleus morphology
small facial motor nucleus
abnormal locus ceruleus morphology
abnormal glial cell morphology
abnormal innervation
abnormal neuron morphology
abnormal motor neuron morphology
decreased neuronal precursor cell number
abnormal cranial ganglia morphology
abnormal geniculate ganglion morphology
abnormal glossopharyngeal ganglion morphology
abnormal petrosal ganglion morphology
absent petrosal ganglion
small trigeminal ganglion
abnormal vagus ganglion morphology
abnormal nodose ganglion morphology
abnormal cranial nerve morphology
abnormal facial nerve morphology
absent facial nerve
absent trigeminal nerve
abnormal vagus nerve morphology
abnormal autonomic nervous system physiology
abnormal nervous system electrophysiology
abnormal neuron physiology
Availability Mouse Genotype
Phox2btm1(Phox2a)Mist/Phox2btm1(Phox2a)Mist
Phox2btm1Jbr/Phox2btm1Jbr
Phox2bDilp1/Phox2b+
Phox2btm1.1Heno/Phox2b+
Phox2btm1Jbr/Phox2b+
Phox2btm2.1Heno/Phox2b+
Phox2btm2Jbr/Phox2b+
Phox2btm3.1Jbr/Phox2btm3.1Jbr
Tg(Pou3f4-cre)32Cren/0  (conditional)
*
Phox2btm3.1Jbr/Phox2btm3.1Jbr
Isl1tm1(cre)Tmj/Isl1+  (conditional)
Phox2btm3.1Jbr/Phox2btm3.1Jbr
Egr2tm2(cre)Pch/Egr2+  (conditional)
Phox2btm3.1Jbr/Phox2btm3.1Jbr
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Isl1tm1(cre)Tmj/Isl1+
Phox2btm3.1Jbr/Phox2btm3.1Jbr  (conditional)
Egr2tm2(cre)Pch/Egr2+
Phox2btm4Jbr/Phox2b+  (conditional)
Phox2btm1Rth/Phox2b+
Hprt1tm1(CAG-cre)Mnn/?  (conditional)
Phox2btm1Rth/Phox2b+
Tg(Fabp7-cre,-lacZ)3Gtm/0  (conditional)
*
Phox2btm4Jbr/Phox2b+
Tg(Pgk1-cre)1Lni/0  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory