Manteia

ENSMUSG00000001496

Mus musculus

Features

Gene ID:	ENSMUSG00000001496

Biological name :	Nkx2-1

Synonyms :	Homeobox protein Nkx-2.1 / Nkx2-1 / P50220

Possible biological names infered from orthology :	NK2 homeobox 1 / P43699

Species:	Mus musculus

Chr. number:	12
Strand:	-1
Band:	C1
Gene start:	56531958
Gene end:	56536908

Corresponding Affymetrix probe sets:	10400474 (MoGene1.0st) 1422346_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000001536 Ensembl peptide - ENSMUSP00000136103 NCBI entrez gene - 21869 See in Manteia. MGI - MGI:108067 RefSeq - XM_011244101 RefSeq - NM_001146198 RefSeq - NM_009385 RefSeq - XM_006515791 RefSeq Peptide - NP_001139670 RefSeq Peptide - NP_033411 swissprot - P50220 Ensembl - ENSMUSG00000001496

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
nkx2.1	ENSDARG00000019835	Danio rerio
NKX2-1	ENSG00000136352	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Nkx2-4 / Q9EQM3 / Homeobox protein Nkx-2.4 / Q9H2Z4* / NK2 homeobox 4*	ENSMUSG00000054160	57
Nkx2-3 / P97334 / Homeobox protein Nkx-2.3 / Q8TAU0* / NK2 homeobox 3*	ENSMUSG00000044220	28
Nkx2-5 / P42582 / Homeobox protein Nkx-2.5 / P52952* / NK2 homeobox 5*	ENSMUSG00000015579	27
Nkx2-2 / P42586 / NK2 homeobox 2 / O95096*	ENSMUSG00000027434	26
Nkx2-6 / P43688 / Homeobox protein Nkx-2.6 / A6NCS4* / NK2 homeobox 6*	ENSMUSG00000044186	25
Nkx3-2 / P97503 / Homeobox protein Nkx-3.2 / P78367* / NK3 homeobox 2*	ENSMUSG00000049691	22
Nkx2-9 / O70584 / Homeobox protein Nkx-2.8 / NKX2-8* / O15522* / NK2 homeobox 8*	ENSMUSG00000058669	22
Hmx3 / P42581 / Homeobox protein HMX3 / A6NHT5* / H6 family homeobox 3*	ENSMUSG00000040148	16
Nkx3-1 / P97436 / NK3 homeobox 1 / Q99801*	ENSMUSG00000022061	15
Hmx1 / O70218 / Homeobox protein HMX1 / Q9NP08* / H6 family homeobox 1*	ENSMUSG00000067438	14
Hmx2 / P43687 / Homeobox protein HMX2 / A2RU54* / H6 family homeobox 2*	ENSMUSG00000050100	13

Protein motifs (from Interpro)

Interpro ID	Name
IPR001356	Homeobox domain
IPR009057	Homeobox-like domain superfamily
IPR017970	Homeobox, conserved site
IPR020479	Homeobox domain, metazoa

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
biological_process	GO:0001764	neuron migration	IMP
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IDA
biological_process	GO:0006357	regulation of transcription by RNA polymerase II	IDA
biological_process	GO:0006644	phospholipid metabolic process	IGI
biological_process	GO:0007389	pattern specification process	IGI
biological_process	GO:0007411	axon guidance	IMP
biological_process	GO:0007420	brain development	IEA
biological_process	GO:0007492	endoderm development	IMP
biological_process	GO:0007626	locomotory behavior	ISO
biological_process	GO:0009725	response to hormone	IEA
biological_process	GO:0009887	animal organ morphogenesis	IMP
biological_process	GO:0010628	positive regulation of gene expression	IEA
biological_process	GO:0010719	negative regulation of epithelial to mesenchymal transition	IEA
biological_process	GO:0021537	telencephalon development	IMP
biological_process	GO:0021759	globus pallidus development	IEA
biological_process	GO:0021766	hippocampus development	IMP
biological_process	GO:0021795	cerebral cortex cell migration	IMP
biological_process	GO:0021798	forebrain dorsal/ventral pattern formation	IMP
biological_process	GO:0021877	forebrain neuron fate commitment	IMP
biological_process	GO:0021879	forebrain neuron differentiation	IMP
biological_process	GO:0021892	cerebral cortex GABAergic interneuron differentiation	IMP
biological_process	GO:0021895	cerebral cortex neuron differentiation	IMP
biological_process	GO:0021983	pituitary gland development	IMP
biological_process	GO:0022029	telencephalon cell migration	IMP
biological_process	GO:0030324	lung development	IEA
biological_process	GO:0030336	negative regulation of cell migration	IEA
biological_process	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA
biological_process	GO:0030878	thyroid gland development	IEA
biological_process	GO:0030900	forebrain development	IEA
biological_process	GO:0031128	developmental induction	IMP
biological_process	GO:0033327	Leydig cell differentiation	IMP
biological_process	GO:0042753	positive regulation of circadian rhythm	IMP
biological_process	GO:0045892	negative regulation of transcription, DNA-templated	IDA
biological_process	GO:0045893	positive regulation of transcription, DNA-templated	IEA
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
biological_process	GO:0048511	rhythmic process	IEA
biological_process	GO:0048646	anatomical structure formation involved in morphogenesis	IMP
biological_process	GO:0048663	neuron fate commitment	IMP
biological_process	GO:0048709	oligodendrocyte differentiation	IGI
biological_process	GO:0060430	lung saccule development	IGI
biological_process	GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA
biological_process	GO:0060486	Clara cell differentiation	IGI
biological_process	GO:0060510	type II pneumocyte differentiation	IGI
cellular_component	GO:0005634	nucleus	ISO
cellular_component	GO:0005654	nucleoplasm	ISS
cellular_component	GO:0005667	transcription factor complex	IDA
molecular_function	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA
molecular_function	GO:0001012	RNA polymerase II regulatory region DNA binding	IEA
molecular_function	GO:0001047	core promoter binding	IDA
molecular_function	GO:0001161	intronic transcription regulatory region sequence-specific DNA binding	IDA
molecular_function	GO:0003677	DNA binding	ISO
molecular_function	GO:0003700	DNA-binding transcription factor activity	IEA
molecular_function	GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008134	transcription factor binding	ISO
molecular_function	GO:0019899	enzyme binding	IEA
molecular_function	GO:0043565	sequence-specific DNA binding	ISO
molecular_function	GO:0044212	transcription regulatory region DNA binding	IEA
molecular_function	GO:0044213	intronic transcription regulatory region DNA binding	ISO

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000474	abnormal foregut morphology	"malformed cephalic portion of the primitive digestive tube of the embryo" [J:35802]	Show Allelic Composition: Sox2^tm2Lpev/Sox2^tm3Lpev Genetic Background: involves: 129S/SvEv * C57BL/6
MP:0000783	abnormal forebrain morphology	"malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0000830	abnormal diencephalon morphology	"any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0000837	abnormal hypothalamus morphology	"any malformation or absence of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0001175	abnormal lung morphology	"malformed organ of respiration" [J:35802]	Show Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1⁺,Vangl2^ska17/Vangl2⁺ Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J Allelic Composition: Nkx2-1^tm3Rdl/Nkx2-1^tm3Rdl Genetic Background: B6.129-Nkx2-1^tm3Rdl Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: B6.129-Nkx2-1^tm1Jaw
MP:0001176	abnormal lung development	"malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6 Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0001178	pulmonary hypoplasia	"reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6 Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0001363	increased anxiety-related response	"when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001399	hyperactivity	"general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001405	impaired coordination	"reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Grpr^tm1Jfb/Grpr^tm1Jfb,Slc17a6^tm1Kldr/Slc17a6^tm1Kldr,Th^tm1(cre)Te/Th⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0001417	decreased exploration in new environment	"less amount of time spent investigating a new location" [J:79870]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001923	reduced female fertility	"reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001928	abnormal ovulation	"aberration in the release of an ovum from a rupturing Graafin follicle, normally regulated by a surge in lutenizing hormone" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001938	delayed sexual maturation	"immaturity of the sexual organs at a given age" [J:61190]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Lipe^tm1Land/Lipe^tm1Land Genetic Background: involves: 129 * C57BL/6J Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl Allelic Composition: Nkx2-1^tm3Rdl/Nkx2-1^tm3Rdl Genetic Background: B6.129-Nkx2-1^tm3Rdl Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: B6.129-Nkx2-1^tm1Jaw
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: Dysf^im/Dysf^im,Large1^myd/Large1^myd Genetic Background: involves: C57BL/6 * SJL/J
MP:0002264	abnormal bronchus morphology	"any structural anomaly of of the upper conducting airways of the lung; these airways arise from the terminus of the trachea " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002273	abnormal alveolar epithelial cell morphology	"any structural anomaly of the cells lining the alveoli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0002275	abnormal type II pneumocyte morphology	"any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002282	abnormal trachea morphology	"structral anomaly of the tube descending from the larynx and branching into the right and left main bronchi" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002295	abnormal pulmonary circulation	"anomalous circulation of blood through the lungs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002782	abnormal testicular secretion	"malfunction of the production and/or release of hormones from testicular tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002786	abnormal Leydig cell morphology	"malformation or absence of the interstitial cells of the seminiferous tubules that secrete testosterone" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Wt1^tm1Jae/Wt1^tm1Jae Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6
MP:0002951	small thyroid gland	"reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Apc^tm1Rak/Apc⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Nkx2-1^tm2Shk/Nkx2-1^tm2Shk,Tg(TPO-cre)1Shk/0 Genetic Background: involves: 129X1/SvJ * FVB/NCr
MP:0003120	abnormal tracheal cartilage	"any structural anomaly of the cartilaginous structures that support the trachea" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:97123]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0003321	tracheoesophageal fistula	"an abnormal passage between the esophagus and the trachea, acquired or congenital, often associated with esophageal atresia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0003421	abnormal thyroid gland development	"failure or abnormality in the formation of the thyroid gland during organogenesis" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95017]	Show Allelic Composition: Apc^tm1Rak/Apc⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl Allelic Composition: Nkx2-1^tm3Rdl/Nkx2-1^tm3Rdl Genetic Background: B6.129-Nkx2-1^tm3Rdl Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: B6.129-Nkx2-1^tm1Jaw
MP:0003816	abnormal pituitary gland development	"malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:51160]	Show Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl
MP:0003858	enhanced coordination	"improved ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0004007	abnormal lung vasculature	"malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0004551	decreased tracheal cartilage ring number	"less than the 16-20 incomplete rings of hyaline cartilage forming the skeleton of the trachea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0004696	abnormal thyroid follicle morphology	"any structural abnormality of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Nkx2-1^tm2Shk/Nkx2-1^tm2Shk,Tg(TPO-cre)1Shk/0 Genetic Background: involves: 129X1/SvJ * FVB/NCr Allelic Composition: Nkx2-1^tm2Shk/Nkx2-1^tm2Shk Genetic Background: involves: 129S4/SvJae * 129X1/SvJ
MP:0004733	abnormal thoracic cavity	"any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0004852	decreased testis weight	"reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0005122	increased circulating thyroid-stimulating hormone level	"greater than expected blood concentration of the hormone that stimulates the growth and function of the thyroid gland" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Zeb1^tm1Yhi/Zeb1^tm1Yhi Genetic Background: B6.129P2-Zeb1^tm1Yhi Allelic Composition: Nkx2-1^tm2Shk/Nkx2-1^tm2Shk Genetic Background: involves: 129S4/SvJae * 129X1/SvJ Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae
MP:0005314	absent thyroid gland	" missing endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:30559]	Show Allelic Composition: Apc^tm1Rak/Apc⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl Allelic Composition: Nkx2-1^tm3Rdl/Nkx2-1^tm3Rdl Genetic Background: B6.129-Nkx2-1^tm3Rdl
MP:0005315	absent pituitary gland	"missing gland that is normally suspended from the base of the hypothalamus and which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:30559]	Show Allelic Composition: Apc^tm1Rak/Apc⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl
MP:0005631	decreased lung weight	"less than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0006382	abnormal lung epithelium morphology	"any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0008288	abnormal adrenal cortex morphology	"any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0008995	early reproductive senescence	"loss of reproductive capacity occurring at an earlier than expected age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0009006	prolonged estrous cycle	"increase in the length of the sexual cycle of female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0009008	delayed estrous cycle	"onset of the sexual cycle of females occurring at a later than expected day/age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her,Npc1^m1N/Npc1^m1N Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6
MP:0009431	decreased fetal weight	"reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0010383	increased adenoma incidence	"greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:C04.557.470.035]	Show Allelic Composition: Nkx2-1^tm2Shk/Nkx2-1^tm2Shk,Tg(TPO-cre)1Shk/0 Genetic Background: involves: 129X1/SvJ * FVB/NCr
MP:0010812	absent type II pneumocytes	"absence of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", PMID:8540632]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0010814	absent alveolar lamellar bodies	"absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0010825	abnormal lung saccule morphology	"any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [GO:0060430, ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1 Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0010856	dilated respiratory conducting tubes	"expansion or widening of the lumens of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0010898	abnormal pulmonary alveolus epithelium morphology	"any structural anomaly of the epithelial layer of the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0010901	abnormal pulmonary alveolar parenchyma morphology	"any structural anomaly of the distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages" [ISBN:070202788 "Saunders Comprehensive Veterinary Dictionary, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0010911	abnormal pulmonary acinus morphology	"any structural anomaly of the part of the airway consisting of a respiratory bronchiole and all of its branches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0010943	abnormal bronchus epithelium morphology	"any structural anomaly of the epithelial layer of the bronchi" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0010993	decreased surfactant secretion	"decreased production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1 Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1
MP:0011024	abnormal branching involved in lung morphogenesis	"anomaly in the process in which the branched structure of the respiratory airway tree is generated and organized" [MGI:csmith]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0011028	impaired branching involved in bronchus morphogenesis		Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0011034	impaired branching involved in respiratory bronchiole morphogenesis		Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0011086	partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
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: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1 Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl Allelic Composition: Nkx2-1^tm3Rdl/Nkx2-1^tm3Rdl Genetic Background: B6.129-Nkx2-1^tm3Rdl Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: B6.129-Nkx2-1^tm1Jaw
MP:0011143	thick lung-associated mesenchyme	"increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development" [MGI:anna]	Show Allelic Composition: Gata6^tm1Msp/Gata6⁺,Nkx2-1^tm1Shk/Nkx2-1⁺ Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1
MP:0011145	abnormal mesenchymal cell differentiation involved in lung development	"abnormal or arrest of differentiation of the mesenchymal cell population in the developing lung" [MGI:anna]	Show Allelic Composition: Nkx2-1^tm1Jaw/Nkx2-1^tm1Jaw Genetic Background: involves: 129S2/SvPas * CD-1
MP:0012684	abnormal pleural cavity morphology	"any structural anomaly of the potential space between the two pleurae (visceral and parietal) of the lungs; the pleural cavity, with its associated pleurae, aids optimal functioning of the lungs during breathing; it normally contains a thin film of serous fluid which lubricates the opposed pleural membranes so that they can glide smoothly against one another during ventilation" [MGI:anna]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0013337	abnormal adenohypophysis development	"aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke s) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia" [MGI:Anna]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0013351	abnormal Rathke s pouch development	"any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [MGI:Anna]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl
MP:0013352	abnormal Rathke s pouch apoptosis	"any change in the timing or number of Rathke s pouch cells undergoing programmed cell death" [MGI:Anna]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0013490	absent infundibular recess of third ventricle	"absence of the funnel-shaped diverticulum that normally extends downward from the anterior aspect of the floor of the third ventricle into the infundibulum of the hypophysis; the embryonic structure gives rise the neural component of the pituitary (pas nervosa)" [MGI:Anna]	Show Allelic Composition: Nkx2-1^tm2Rdl/Nkx2-1^tm2Rdl Genetic Background: B6.129-Nkx2-1^tm2Rdl
MP:0014198	absent pituitary infundibular stalk	"absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland" [MGI:Anna]	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0020556	abnormal ventromedial hypothalamic nucleus morphology	"any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity" []	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae
MP:0020558	decreased ventromedial hypothalamic nucleus size	"decrease in the size of the ventromedial hypothalamic nucleus" []	Show Allelic Composition: Nkx2-1^tm1Shk/Nkx2-1^tm1Shk Genetic Background: involves: 129S4/SvJae

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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