Manteia - Molecule gene

ENSMUSG00000002210

Mus musculus

Features

Gene ID:	ENSMUSG00000002210

Biological name :	Smg9

Synonyms :	Protein SMG9 / Q9DB90 / Smg9

Possible biological names infered from orthology :	Q9H0W8 / SMG9, nonsense mediated mRNA decay factor

Species:	Mus musculus

Chr. number:	7
Strand:	1
Band:	A3
Gene start:	24399619
Gene end:	24422778

Corresponding Affymetrix probe sets:	10550889 (MoGene1.0st) 1460435_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000114943 Ensembl peptide - ENSMUSP00000002280 Ensembl peptide - ENSMUSP00000104073 NCBI entrez gene - 71997 See in Manteia. MGI - MGI:1919247 RefSeq - XM_006540377 RefSeq - XM_006540378 RefSeq - XM_006540379 RefSeq - NM_028047 RefSeq Peptide - NP_082323 swissprot - Q9DB90 swissprot - D3Z719 swissprot - F6YIT4 Ensembl - ENSMUSG00000002210

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
smg9	ENSDARG00000076627	Danio rerio
SMG9	ENSG00000105771	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR019354	Smg8/Smg9

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS
biological_process	GO:0001654	eye development	IMP
biological_process	GO:0007420	brain development	IMP
biological_process	GO:0007507	heart development	IMP
cellular_component	GO:0005622	intracellular	IEA
molecular_function	GO:0042802	identical protein binding	IEA

Pathways (from Reactome)

Pathway description

Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000162	lordosis	"anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0000282	abnormal atrial septum morphology	"abnormality in the wall between the atria of the heart, usually incomplete closure " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0000284	double outlet right ventricle	"both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0000297	abnormal endocardial cushion morphology	"malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0000520	absent kidney	"missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0000562	polydactyly	"greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0000602	enlarged sinusoidal spaces	"larger than normal sized cavities in the liver " [J:23170]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0000632	abnormal pineal gland morphology	"anomalous structure of the small, flattened body located in the depression between the superior colliculi and which produces melatonin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0000914	exencephaly	"neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0001014	absent superior cervical ganglion	"missing group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17792]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0001015	small superior cervical ganglion	"reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:23882]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0001293	anophthalmia	"congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0001303	abnormal lens morphology	"malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0001785	edema	"an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0001914	hemorrhage	"loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0002237	abnormal nasal cavity morphology	"any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Esr2^tm1.1Gust/Esr2^tm1.1Gust Genetic Background: B6J.129X1(Cg)-Esr2^tm1.1Gust
MP:0002652	thin myocardial wall	"thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0002725	abnormal vein morphology	"malformation of the blood vessels that carry blood towards the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0003078	aphakia	"absence of the crystalline lens of the eye" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0003327	liver cysts	"abnormal membranous sacs in any portion of the liver" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0003387	coarctation of aorta	"narrowing of the aorta" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0003686	abnormal eye muscle morphology	"malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0004055	atrial hypoplasia	"reduction in cell number of one or both of the two upper chambers of the heart" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:36567]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0004164	abnormal neurophysis morphology	"any malfomation or absence of the part of the pituitary gland that secretes hormones involved in blood pressure regulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0004200	reduced fetal size	"smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0004201	fetal growth retardation	"slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0004269	abnormal optic cup morphology	"any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0004463	basisphenoid bone foramen	"the presence of one or more holes in part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0004612	fusion of vertebral bodies	"improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0005105	abnormal middle ear ossicle morphology	"anomalous structure or development of the three small bones of the middle ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0005262	coloboma	"anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0006011	abnormal endolymphatic duct morphology	"any structural alteration in the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0006063	abnormal inferior vena cava morphology	"structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0006065	abnormal heart position	"the heart is displaced from the normal left-sided position and/or orientation" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0008922	abnormal cervical rib	"alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0008923	thoracoschisis	"congenital fissure of the chest wall" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0009743	preaxial polydactyly	"duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0009770	abnormal optic chiasm morphology	"an anomaly in the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0009771	absent optic chiasm	"absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010412	atrioventricular septal defect	"defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010418	perimembraneous ventricular septal defect	"abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010420	muscular ventricular septal defect	"abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010490	abnormal inferior vena cava valve morphology	"any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010572	persistent right dorsal aorta	"persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0010647	left atrium hypoplasia	"underdevelopment or reduced size of the left upper chamber of the heart, usually due to reduced cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
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: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0011109	partial lethality throughout fetal growth and development	"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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0011493	double ureter	"two ureters open separately into the renal pelvis superiorly and drain separately into the urinary bladder or genital tract; if two ureteral buds arise from the Wolffian duct, a duplex kidney with complete ureteral duplication ensues" [http://emedicine.medscape.com/article/378075-overview, MGI:anna]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0011659	interrupted aortic arch, type b	"complete discontinuation/blockage between the ascending and descending aorta with the interruption located between second carotid artery and ipsilateral subclavian artery" [MGI:csmith]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0012089	decreased midbrain size	"size reduction or truncation of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes" [MGI:anna, MGI:csmith]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0012263	decreased hindbrain size	"size reduction or truncation of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived" [MGI:anna]	Show Allelic Composition: Shank3^tm5.1Gfng/Shank3^tm5.1Gfng,Tg(CAG-cre/Esr1)1Lbe/0 Genetic Background:* involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J
MP:0013836	abnormal hypoglossal nerve topology	"abnormal position of the hypoglossal nerve " [MGI:csmith]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013840	absent segment of posterior cerebral artery	"absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain" [UBERON:0001636]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013848	subcutaneous edema	"accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013876	absent ductus venosus valve	"absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013877	abnormal ductus venosus valve morphology	"any structural anomaly of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013879	duplication of ductus venosus	"duplication of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein that allows oxygenated blood to bypass the developing liver during the time when this connection is normally open; this normally closes during develpment to adulthood" [MGI:csmith]	Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013917	persistent right 6th pharyngeal arch artery		Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013969	reduced sympathetic cervical ganglion size		Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013970	absent connection between subcutaneous lymph vessels and lymph sac		Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0013971	blood in lymph vessels		Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
MP:0014021	heterochrony		Show Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000058301	Upf1 / Q9EPU0 / UPF1 regulator of nonsense transcripts homolog (yeast) / Q92900* / UPF1, RNA helicase and ATPase*	/ complex
ENSMUSG00000020495	Smg8 / Q8VE18 / Protein SMG8 / Q8ND04* / SMG8, nonsense mediated mRNA decay factor*	/ complex
ENSMUSG00000030655	Smg1 / Q8BKX6 / Serine/threonine-protein kinase SMG1 / Q96Q15* / SMG1, nonsense mediated mRNA decay associated PI3K related kinase*	/ complex

0 s.

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