Manteia

ENSMUSG00000001017

Mus musculus

Features

Gene ID:	ENSMUSG00000001017

Biological name :	Chtop

Synonyms :	Chromatin target of PRMT1 protein / Chtop / Q9CY57

Possible biological names infered from orthology :	chromatin target of PRMT1 / Q9Y3Y2

Species:	Mus musculus

Chr. number:	3
Strand:	-1
Band:	F1
Gene start:	90498956
Gene end:	90509498

Corresponding Affymetrix probe sets:	10499847 (MoGene1.0st) 1423408_a_at (Mouse Genome 430 2.0 Array) 1423409_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000102967 Ensembl peptide - ENSMUSP00000102966 Ensembl peptide - ENSMUSP00000102969 Ensembl peptide - ENSMUSP00000123448 Ensembl peptide - ENSMUSP00000116945 Ensembl peptide - ENSMUSP00000001043 Ensembl peptide - ENSMUSP00000061800 Ensembl peptide - ENSMUSP00000075936 Ensembl peptide - ENSMUSP00000102965 NCBI entrez gene - 66511 See in Manteia. MGI - MGI:1913761 RefSeq - NM_001293777 RefSeq - NM_001293776 RefSeq - NM_001293778 RefSeq - NM_001293779 RefSeq - NM_001293780 RefSeq - NM_001293781 RefSeq - NM_001293782 RefSeq - NM_023215 RefSeq Peptide - NP_001280710 RefSeq Peptide - NP_001280711 RefSeq Peptide - NP_075704 RefSeq Peptide - NP_001280705 RefSeq Peptide - NP_001280706 RefSeq Peptide - NP_001280707 RefSeq Peptide - NP_001280708 RefSeq Peptide - NP_001280709 swissprot - Q9CY57 swissprot - D3YZA1 swissprot - B7ZMS6 swissprot - E9PW20 swissprot - D3Z7T7 Ensembl - ENSMUSG00000001017

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
chtopa	ENSDARG00000057234	Danio rerio
chtopb	ENSDARG00000070430	Danio rerio
CHTOP	ENSGALG00000042129	Gallus gallus
CHTOP	ENSG00000160679	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR025715	Chromatin target of PRMT1 protein, C-terminal

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0006406	mRNA export from nucleus	IEA
biological_process	GO:0008284	positive regulation of cell proliferation	ISS
biological_process	GO:0031062	positive regulation of histone methylation	ISS
biological_process	GO:0032781	positive regulation of ATPase activity	IEA
biological_process	GO:0051096	positive regulation of helicase activity	IEA
cellular_component	GO:0000346	transcription export complex	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005654	nucleoplasm	IEA
cellular_component	GO:0005730	nucleolus	IEA
cellular_component	GO:0016607	nuclear speck	IEA
cellular_component	GO:0036464	cytoplasmic ribonucleoprotein granule	IEA
molecular_function	GO:0003723	RNA binding	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008327	methyl-CpG binding	ISS

Pathways (from Reactome)

Pathway description

Cleavage of Growing Transcript in the Termination Region

Transport of Mature mRNA derived from an Intron-Containing Transcript

mRNA 3-end processing

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000138	absent vertebrae	"missing bony segments of the spinal column" [J:35802]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000141	abnormal vertebral body morphology	"malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000153	rib bifurcation	"forking or division of ribs, may be a result of partial rib fusions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000154	rib fusion	"appearance of one or more ribs as a single structure" [J:62022, J:62023]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000161	scoliosis	"lateral and rotational curvature of the spine" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53770, J:66943]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000455	abnormal maxilla morphology	"malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000492	abnormal rectum morphology	"structural aberration in the terminal portion of the intestinal tube adjacent to the anus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000497	abnormal small intestine placement	"different location or arrangement of the small intestinal tract" [J:40203]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000562	polydactyly	"greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Casq2^{tm1b(KOMP)Wtsi}/Casq2⁺ Genetic Background: C57BL/6N-Casq2^{tm1b(KOMP)Wtsi}/Ucd
MP:0000613	abnormal salivary gland morphology	"malformed saliva-secreting glands of the oral cavity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:63764]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000681	abnormal thyroid gland morphology	"anomalous structure 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:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000690	absent spleen	"missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000694	spleen hypoplasia	"small size due to reduced cell number in the spleen" [J:43971]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000820	abnormal choroid plexus morphology	"malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000963	fused dorsal root ganglia	"loss of DRG spacing pattern and the appearance of two or more ganglia as one " [J:62022, J:62023]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0001088	small nodose ganglion	"reduced size of the nodose ganglion" [J:25565, J:17123]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0001634	internal hemorrhage	"blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002633	persistent truncus arteriosis	"complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002745	abnormal atrioventricular valve morphology	"malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002932	abnormal joint	"defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Casq2^{tm1b(KOMP)Wtsi}/Casq2⁺ Genetic Background: C57BL/6N-Casq2^{tm1b(KOMP)Wtsi}/Ucd
MP:0003130	anal atresia	"absence of a connection between the anal pit and the rectum" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003345	decreased number of ribs	"fewer than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003451	absent olfactory bulb	"absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003499	thyroid hypoplasia		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003617	urinary bladder hypoplasia	"reduced number of cells comprising the urinary bladder, often resulting in a small size" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003686	abnormal eye muscle morphology	"malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003827	abnormal Wolffian duct morphology	"malformation of the transient embryonic tubes that empty into the cloca and degenerate in the male " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003924	herniated diaphragm	"protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004158	right aortic arch	"the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004160	retroesophageal right subclavian artery	"the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004163	abnormal adenophysis morphology	"any malformation or absence of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004268	abnormal optic stalk morphology	"any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain" [ISBN:0-914294-08-3 "Gray s Anatomy"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004603	absent vertebral arch	"loss of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004607	abnormal cervical atlas morphology	"any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004613	fusion of vertebral arches	"improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004646	decreased cervical vertebrae number	"reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004647	decreased lumbar vertebrae number	"reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Casq2^{tm1b(KOMP)Wtsi}/Casq2⁺ Genetic Background: C57BL/6N-Casq2^{tm1b(KOMP)Wtsi}/Ucd
MP:0004648	decreased thoracic vertebrae number	"reduced number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0005157	holoprosencephaly	"presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0005274	abnormal viscerocranium morphology	"anomalous structure or formation of the part of the skull that comprises the facial bones " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0006093	arteriovenous malformation	"fusion of an artery and vein without an intervening capillary bed" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93125]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0006107	abnormal atrioventricular canal morphology	"malformation or anomaly in development of the common canal connecting the primordial atrium and ventricle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93610]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0008460	absent dorsal root ganglion	"absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0009804	abnormal interventricular foramen morphology	"any structural anomaly of the paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0009917	abnormal hyoid bone body morphology	"any structural anomaly of the main curve of the hyoid bone, from which the horns extend" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010101	increased sacral vertebrae number	"increase of any or all of the four bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Casq2^{tm1b(KOMP)Wtsi}/Casq2⁺ Genetic Background: C57BL/6N-Casq2^{tm1b(KOMP)Wtsi}/Ucd
MP:0010404	ostium primum atrial septal defect	"interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010406	absent atrial septum	"absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010440	anomalous pulmonary venous connection	"abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010484	bicuspid aortic valve	"the presence of two cusps in the aortic valve instead of three" [http://emedicine.medscape.com]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010668	abnormal hepatic portal vein morphology	"any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010728	fusion of atlas and occipital bones	"union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010977	fused right lung lobes	"complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0011361	pelvic kidney	"an ectopic kidney located outside the renal fossa and within the pelvic cavity; pelvic kidneys may also, on occasion, occur as fused midline horseshoe kidneys" [MGI:anna]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0011797	blind ureter	"a ureter ending in a blind-ended segment or pouch" [MGI:anna]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0011974	intestinal stenosis	"abnormal narrowing or constriction of the segment of the alimentary canal extending from the pyloric sphincter of the stomach to the anus" [MGI:llw2]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0012548	myelocele	"hernial protrusion of the spinal cord through an opening or defect in the vertebral column" [MGI:anna]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013826	absent hypoglossal canal	"absence of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull" [ISBN:0683400088]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013834	thin hypoglossal nerve	"slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013835	absent hypoglossal nerve	"absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013842	ductus venosus stenosis	"narrowing of the lumen 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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013848	subcutaneous edema	"accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013853	abnormal hepatic portal vein formation	"aberrant formation of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver" [ISBN:0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013855	absent celiac artery	"absence of the short, thick trunk which arises from the front of the abdominal aorta immediately below the aortic opening in the diaphragm" [ISBN:0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013857	abnormal abdominal muscle morphology	"any structural anomaly of a muscle that is part of the abdomen" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013858	abnormal azygos vein topology	"abnormal position(s) of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava" [MGI:anna]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013859	abnormal vitelline vein connection	"aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013860	anastomosis between common carotid and vertebral artery		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013861	abnormal pancreas topology	"abnormal postion of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013865	abnormal dorsal pancreas topology	"aberrant location or orientation of the transient embryonic structure that fuses with the ventral pancreas during development to form a single organ" [PMID:23909279]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013873	abnormal ductus venosus morphology	"any structural anomaly 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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013878	abnormal ductus venosus valve topology	"abnormal position 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: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013913	absent rib-vertebral column attachment	"one or more ribs are not connected to vertebra, where this connection is normally made" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013915	abnormal brachial plexus formation	"abnormal formation of the arrangement of nerve fibers, running from the spine, formed by the ventral rami of the lower cervical and upper thoracic nerve root, specifically from below the fifth cervical vertebra to above the first thoracic vertebra" [UBERON:0001814]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013931	abnormal olfactory bulb position		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013943	abnormal ureter topology	"abnormal position of the tube that conducts the urine from the renal pelvis to the bladder" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013952	retro-esophageal left subclavian artery		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013969	reduced sympathetic cervical ganglion size		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013978	abnormal carotid artery origin		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013979	abnormal subclavian artery origin		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013986	abnormal vitelline vein topology	"abnormal position of the paired veins that carry blood from the yolk sac back to the embryo" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013987	absent intrahepatic inferior vena cava segment		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013999	absent parasellar internal carotid artery		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014001	abnormal vertebral artery topology	"abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]	Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014002	absent extracranial vertebral artery segment		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014019	embryo cyst		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014021	heterochrony		Show Allelic Composition: Cbln3^{tm1.1(KOMP)Vlcg}/Cbln3^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Cbln3^{tm1.1(KOMP)Vlcg}/Ucd

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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