Manteia

ENSMUSG00000012520

Mus musculus

Features

Gene ID:	ENSMUSG00000012520

Biological name :	Phox2b

Synonyms :	O35690 / Paired mesoderm homeobox protein 2B / Phox2b

Possible biological names infered from orthology :	paired like homeobox 2b / Q99453

Species:	Mus musculus

Chr. number:	5
Strand:	-1
Band:	C3.1
Gene start:	67094399
Gene end:	67099301

Corresponding Affymetrix probe sets:	10530306 (MoGene1.0st) 1422232_at (Mouse Genome 430 2.0 Array) 1455907_x_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000012664 Ensembl peptide - ENSMUSP00000134216 NCBI entrez gene - 18935 See in Manteia. MGI - MGI:1100882 RefSeq - NM_008888 RefSeq Peptide - NP_032914 swissprot - O35690 swissprot - Q8C741 Ensembl - ENSMUSG00000012520

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
phox2bb	ENSDARG00000091029	Danio rerio
PHOX2B	ENSGALG00000014250	Gallus gallus
PHOX2B	ENSG00000109132	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Phox2a / Q62066 / Paired mesoderm homeobox protein 2A / O14813* / paired like homeobox 2a*	ENSMUSG00000007946	52
Arx / O35085 / Homeobox protein ARX / Q96QS3* / aristaless related homeobox*	ENSMUSG00000035277	26
Uncx / O08934 / UNC homeobox / A6NJT0*	ENSMUSG00000029546	25
Alx4 / O35137 / Homeobox protein aristaless-like 4 / Q9H161* / ALX homeobox 4*	ENSMUSG00000040310	24
Prrxl1 / Q8BYH0 / paired related homeobox protein-like 1 / DRGX* / A6NNA5* / dorsal root ganglia homeobox*	ENSMUSG00000041730	24
Alx1 / Q8C8B0 / ALX homeobox protein 1 / Q15699* / ALX homeobox 1*	ENSMUSG00000036602	22
Alx3 / O70137 / Homeobox protein aristaless-like 3 / O95076* / ALX homeobox 3*	ENSMUSG00000014603	21
Isx / A1A546 / intestine specific homeobox / Q2M1V0*	ENSMUSG00000031621	20
Rax / O35602 / Retinal homeobox protein Rx / Q9Y2V3* / retina and anterior neural fold homeobox*	ENSMUSG00000024518	20
Vsx2 / Q61412 / visual system homeobox 2 / P58304*	ENSMUSG00000021239	20
Vsx1 / Q91V10 / visual system homeobox 1 / Q9NZR4*	ENSMUSG00000033080	19

Protein motifs (from Interpro)

Interpro ID	Name
IPR001356	Homeobox domain
IPR009057	Homeobox-like domain superfamily
IPR017970	Homeobox, conserved site

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001764	neuron migration	IMP
biological_process	GO:0002087	regulation of respiratory gaseous exchange by neurological system process	IMP
biological_process	GO:0003357	noradrenergic neuron differentiation	IMP
biological_process	GO:0003358	noradrenergic neuron development	IMP
biological_process	GO:0003360	brainstem development	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0006366	transcription by RNA polymerase II	IEA
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0008285	negative regulation of cell proliferation	IMP
biological_process	GO:0010001	glial cell differentiation	IMP
biological_process	GO:0010468	regulation of gene expression	IMP
biological_process	GO:0021533	cell differentiation in hindbrain	IMP
biological_process	GO:0021723	medullary reticular formation development	IEP
biological_process	GO:0021934	hindbrain tangential cell migration	IMP
biological_process	GO:0030182	neuron differentiation	IMP
biological_process	GO:0035914	skeletal muscle cell differentiation	IMP
biological_process	GO:0045665	negative regulation of neuron differentiation	IGI
biological_process	GO:0045666	positive regulation of neuron differentiation	IGI
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
biological_process	GO:0048468	cell development	IMP
biological_process	GO:0048483	autonomic nervous system development	IEA
biological_process	GO:0048484	enteric nervous system development	IMP
biological_process	GO:0048485	sympathetic nervous system development	IMP
biological_process	GO:0048486	parasympathetic nervous system development	IMP
biological_process	GO:0048839	inner ear development	IMP
biological_process	GO:0048894	efferent axon development in a lateral line nerve	IMP
biological_process	GO:0060541	respiratory system development	IMP
biological_process	GO:0061452	retrotrapezoid nucleus neuron differentiation	IMP
biological_process	GO:0061549	sympathetic ganglion development	IMP
biological_process	GO:0071542	dopaminergic neuron differentiation	IMP
biological_process	GO:0071773	cellular response to BMP stimulus	IDA
biological_process	GO:1901166	neural crest cell migration involved in autonomic nervous system development	IMP
cellular_component	GO:0000790	nuclear chromatin	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005654	nucleoplasm	IEA
molecular_function	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA
molecular_function	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	IEA
molecular_function	GO:0001077	transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	IEA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0043565	sequence-specific DNA binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000255	vasculature congestion	"obstruction of the normal flux of blood within the blood vessel network" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0000846	abnormal medulla oblongata	"anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0000910	small facial motor nucleus	"reduced size of the group of motor neurons residing in the pons that innervate the muscles of facial expression" [Principles of Neural Science:ISBN 0-8385-8034-3, J:56847]	Show Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0000937	abnormal motor neuron morphology	"malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * CD-1
MP:0001008	abnormal sympathetic ganglia morphology	"malformed or absent groups of neuronal cell bodies of the autonomic nervous system" [J:18048]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0001034	abnormal parasympathetic ganglia morphology	"malformation or absence of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA/J
MP:0001044	abnormal enteric nervous system morphology	"malformation or absence of the part of the autonomic nervous system that innervates the esophagus, stomach, small and large bowel" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae
MP:0001045	abnormal enteric ganglia morphology	"any strucutural anomaly or deformity of the groups of nerve cell bodies associated with the enteric neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0001056	abnormal cranial nerve morphology	"any anomaly, deformity, or malformation of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001066	absent trigeminal nerve	"missing chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:33038]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001074	abnormal vagus nerve morphology	"malformed or misprojection of autonomic, sensory and motor axons of the tenth cranial nerve to the pharynx, larynx, trachea, lungs, heart and GI tract" [Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001081	abnormal cranial ganglia morphology	"any anomaly, deformity, or malformation of the groups of nerve cell bodies associated with the twelve cranial nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae
MP:0001082	abnormal geniculate ganglion morphology	"malformed group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001084	abnormal petrosal ganglion morphology	"malformation of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001086	absent petrosal ganglion	" missing the group of sensory neuron cell bodies comprising the petrosal ganglion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * CD-1
MP:0001087	abnormal nodose ganglion morphology	"malformation of the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001093	small trigeminal ganglion	"reduced size of the trigeminal ganglion" [J:25565, J:17123]	Show Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae
MP:0001096	abnormal glossopharyngeal ganglion morphology	"malformed group of neuron cell bodies associated with the ninth cranial nerve" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0001100	abnormal vagus ganglion morphology	"malformed group of sensory neuron cell bodies associated with the vagus nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Nkx6-2^tm1Ercs/Nkx6-2⁺,Phox2b^{tm1(Phox2a)Mist}/Phox2b⁺ Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6
MP:0001575	cyanosis	"a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0001942	abnormal lung volume	"anomaly in the amount of air that the lungs contain at various points of the respiratory cycle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0001943	abnormal respiration	"anomaly in the movement of gases into and out of the lung " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6
MP:0001951	abnormal breathing	"irregular or atypical breathing pattern " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0001957	apnea	"absence of breathing; sometimes episodic" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17384]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0002082	postnatal lethality	"premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Npc1^nmf164/Npc1^nmf164 Genetic Background: C57BL/6J-Npc1^nmf164/J
MP:0002092	abnormal eye morphology	"abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Npc1^nmf164/Npc1^nmf164 Genetic Background: C57BL/6J-Npc1^nmf164/J
MP:0002127	abnormal cardiovascular system morphology	"abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Nkx6-2^tm1Ercs/Nkx6-2⁺,Phox2b^{tm1(Phox2a)Mist}/Phox2b⁺ Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺,Rbpj^tm1Hon/Rbpj^tm1Hon,Tg(tetO-cre)1Jaw/0 Genetic Background: involves: 129 * C57BL/6
MP:0002321	hypoventilation	"reduced alveolar ventiliation relative to metabolic carbon dioxide production; results in alveolar carbon dioxide pressure increasing above normal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0002327	abnormal respiratory function	"anomaly in any measure of the processes involved in respiration" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * C57BL/6 * CD-1 * DBA/2 Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0002338	abnormal pulmonary ventilation	"anomaly in the total volume of gas per minute inspired or expired " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Foxc1^tm1Blh/Foxc1^tm1Blh,Foxc2^tm1Blh/Foxc2^tm1Blh Genetic Background: involves: 129S6/SvEvTac * Black Swiss
MP:0002546	mydriasis	"dilation of one or both pupils" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Foxc1^tm1Blh/Foxc1^tm1Blh,Foxc2^tm1Blh/Foxc2^tm1Blh Genetic Background: involves: 129S6/SvEvTac * Black Swiss Allelic Composition: Phox2b^Dilp1/Phox2b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0002751	abnormal autonomic nervous system morphology	"any malformation or absence of neurons in the motor system for the viscera, the smooth muscles of the body or exocrine glands; includes the enteric, parasympathetic, and sympathetic nervous systems taken together" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0003029	alkalemia	"decreased concentration of H-ion in the blood or a rise in pH" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Egr2^tm2(cre)Pch/Egr2⁺,Phox2b^tm4Jbr/Phox2b⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2
MP:0003437	abnormal carotid body morphology	"any malformation in a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, monikat:Monika Tomczuk, Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0003632	abnormal nervous system morphology		Show Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * C57BL/6 * CD-1 * DBA/2
MP:0003634	abnormal glia	"malformation or absence of non-neuronal cells of the nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0003651	abnormal axon outgrowth	"defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]	Show Allelic Composition: Nkx6-2^tm1Ercs/Nkx6-2⁺,Phox2b^{tm1(Phox2a)Mist}/Phox2b⁺ Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae
MP:0003661	abnormal locus ceruleus	"anomaly in a dense cluster of neurons within the dorsorostral pons; it is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic" [J:96328, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae
MP:0003964	abnormal noradrenaline level	"aberrant concentration of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae
MP:0004101	abnormal brain interneuron morphology	"malformation or absence of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ
MP:0004186	abnormal area postrema	"structural malformation or absence of the small, elevated area in the lateral wall of the inferior recess of the fourth ventricle, involved in the control of cardiorespiratory physiology" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator ""]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0004561	absent facial nerve	"absence of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0004811	abnormal neuron physiology	"anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Egr2^tm2(cre)Pch/Egr2⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2 Allelic Composition: Phox2b^tm2Jbr/Phox2b⁺ Genetic Background: involves: 129S2/SvPas Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0004948	abnormal neuronal precursor proliferation	"any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0004981	decreased neuronal precursor cell number	"reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0004990	abnormal ciliary ganglion morphology	"any anomaly of the parasympathetic ganglia in the orbit behind the eye that receives preganglionic innervation through the oculomotor nerve" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Foxc1^tm1Blh/Foxc1^tm1Blh,Foxc2^tm1Blh/Foxc2^tm1Blh Genetic Background: involves: 129S6/SvEvTac * Black Swiss Allelic Composition: Phox2b^Dilp1/Phox2b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0005576	decreased pulmonary ventilation	"less than the normal total volume of gas per minute inspired or expired " [RGD:Rat Genome Database submission]	Show Allelic Composition: Foxc1^tm1Blh/Foxc1^tm1Blh,Foxc2^tm1Blh/Foxc2^tm1Blh Genetic Background: involves: 129S6/SvEvTac * Black Swiss Allelic Composition: Egr2^tm2(cre)Pch/Egr2⁺,Phox2b^tm4Jbr/Phox2b⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2
MP:0006243	abnormal pupil dilation reaction to light	"the pupil fails to constrict fully when exposed to bright light" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Foxc1^tm1Blh/Foxc1^tm1Blh,Foxc2^tm1Blh/Foxc2^tm1Blh Genetic Background: involves: 129S6/SvEvTac * Black Swiss Allelic Composition: Phox2b^Dilp1/Phox2b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0006276	abnormal autonomic nervous system physiology	"anomaly in the function of the sensory and motor neurons that run between the central nervous system (especially the hypothalamus and medulla oblongata) and various internal organs (heart, lungs, endocrine and exocrine glands), responsible for controling involuntary bodily functions" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]	Show Allelic Composition: Egr2^tm2(cre)Pch/Egr2⁺,Phox2b^tm4Jbr/Phox2b⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2
MP:0008314	abnormal pterygopalatine ganglion morphology	"any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * CD-1
MP:0009937	abnormal neuron differentiation	"abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Egr2^tm2(cre)Pch/Egr2⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2
MP:0011085	complete postnatal lethality	"premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Egr2^tm2(cre)Pch/Egr2⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2 Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pou3f4-cre)32Cren/0 Genetic Background: involves: 129S2/SvPas * C57BL/6 * CD-1 * DBA/2 Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0011098	complete embryonic lethality during organogenesis	"death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]	Show Allelic Composition: Phox2b^{tm1(Phox2a)Mist}/Phox2b^{tm1(Phox2a)Mist} Genetic Background: involves: 129S4/SvJae Allelic Composition: Phox2b^tm3Jbr/Phox2b^tm3Jbr,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2
MP:0011099	complete lethality throughout fetal growth and development	"death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0011108	partial embryonic lethality during organogenesis	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]	Show Allelic Composition: Otx2^tm1Sia/Otx2⁺ Genetic Background: involves: C57BL/6 * CBA
MP:0011110	partial preweaning lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Phox2b^Dilp1/Phox2b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0011406	abnormal retrotrapezoid nucleus morphology	"any structural anomaly in the loose collection of neurons that reside in the rostral medulla close to the medullary surface, ventral and immediately caudal of nVII, that are crucial for CO2 sensing in the brain" [MGI:smb, PMID:21900566]	Show Allelic Composition: Cryaa^tm1Ady/Cryaa⁺ Genetic Background: involves: 129 Allelic Composition: Phox2b^tm4Jbr/Phox2b⁺,Tg(Pgk1-cre)1Lni/0 Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2 Allelic Composition: Egr2^tm2(cre)Pch/Egr2⁺,Phox2b^tm4Jbr/Phox2b⁺ Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2 Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0011827	impaired neuron differentiation	"decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0013002	decreased enteric neural crest cell number	"a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut" [MGI:anna, PMID:17514199]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0013005	decreased enteric neural crest cell proliferation	"reduced ability of the enteric neural crest cells to undergo rapid expansion by cell division " [MGI:anna]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
MP:0013006	abnormal enteric neural crest cell migration	"any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut; NCCs are termed enteric neural crest-derived cells upon entering the foregut at E9-9.5 in mice (after 4 weeks gestation in humans) and the colonization process is complete by E15.5 (after 7 weeks gestation in humans)" [MGI:anna, PMID:17514199]	Show Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) Allelic Composition: Phox2b^tm2.1Heno/Phox2b⁺ Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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