Manteia

ENSMUSG00000019188

Mus musculus

Features

Gene ID:	ENSMUSG00000019188

Biological name :	H13

Synonyms :	H13 / Minor histocompatibility antigen H13 / Q9D8V0

Possible biological names infered from orthology :	histocompatibility minor 13 / HM13 / Q8TCT9

Species:	Mus musculus

Chr. number:	2
Strand:	1
Band:	H1
Gene start:	152669461
Gene end:	152708670

Corresponding Affymetrix probe sets:	10477147 (MoGene1.0st) 1417287_at (Mouse Genome 430 2.0 Array) 1428855_at (Mouse Genome 430 2.0 Array) 1428856_at (Mouse Genome 430 2.0 Array) 1438456_at (Mouse Genome 430 2.0 Array) 1438865_at (Mouse Genome 430 2.0 Array) 1455631_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000078236 Ensembl peptide - ENSMUSP00000086460 Ensembl peptide - ENSMUSP00000105450 Ensembl peptide - ENSMUSP00000120068 NCBI entrez gene - 14950 See in Manteia. MGI - MGI:95886 RefSeq - XM_017315666 RefSeq - NM_001159551 RefSeq - NM_001159552 RefSeq - NM_001159553 RefSeq - NM_010376 RefSeq - XM_006498783 RefSeq Peptide - NP_001153025 RefSeq Peptide - NP_034506 RefSeq Peptide - NP_001153023 RefSeq Peptide - NP_001153024 swissprot - Q6PGJ8 swissprot - Q9D8V0 swissprot - A3KGR9 Ensembl - ENSMUSG00000019188

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
hm13	ENSDARG00000037846	Danio rerio
HM13	ENSGALG00000006207	Gallus gallus
HM13	ENSG00000101294	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Sppl3 / Q9CUS9 / Signal peptide peptidase-like 3 / Q8TCT6*	ENSMUSG00000029550	23
Q3TD49 / Sppl2b / Signal peptide peptidase-like 2B / Q8TCT7*	ENSMUSG00000035206	22
Q9JJF9 / Sppl2a / signal peptide peptidase like 2A / Q8TCT8*	ENSMUSG00000027366	21
A2A6C4 / Sppl2c / Signal peptide peptidase-like 2C / Q8IUH8*	ENSMUSG00000049506	19

Protein motifs (from Interpro)

Interpro ID	Name
IPR006639	Presenilin/signal peptide peptidase
IPR007369	Peptidase A22B, signal peptide peptidase

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006508	proteolysis	IEA
biological_process	GO:0033619	membrane protein proteolysis	IEA
biological_process	GO:1904211	membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IEA
cellular_component	GO:0005765	lysosomal membrane	IBA
cellular_component	GO:0005783	endoplasmic reticulum	ISO
cellular_component	GO:0005789	endoplasmic reticulum membrane	IDA
cellular_component	GO:0005791	rough endoplasmic reticulum	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0030660	Golgi-associated vesicle membrane	IBA
cellular_component	GO:0036513	Derlin-1 retrotranslocation complex	IEA
cellular_component	GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane	IEA
cellular_component	GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	IEA
molecular_function	GO:0004190	aspartic-type endopeptidase activity	IEA
molecular_function	GO:0008233	peptidase activity	ISO
molecular_function	GO:0016787	hydrolase activity	IEA
molecular_function	GO:0031625	ubiquitin protein ligase binding	IEA
molecular_function	GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IEA
molecular_function	GO:0042803	protein homodimerization activity	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000137	abnormal vertebrae morphology	"malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000150	abnormal rib morphology	"malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000151	absent rib	"missing the pairs of bony structures that make up the body wall" [J:19212]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000520	absent kidney	"missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000602	enlarged sinusoidal spaces	"larger than normal sized cavities in the liver " [J:23170]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000819	abnormal olfactory bulb morphology	"malformation or 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:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000841	abnormal hindbrain morphology	"malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002111	abnormal tail morphology	"abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002152	abnormal brain morphology	"anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002177	abnormal outer ear morphology	"malformation or malfunction of any components of the auricles or external acoustic meatus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002766	situs inversus	"lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002858	abnormal posterior semicircular canal	"anomaly of the posterior segment of the long bony tube of the labyrinth that is involved in the sense of balance" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002989	small kidney	"reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003178	left pulmonary isomerism	"bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003232	abnormal forebrain development	"anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003632	abnormal nervous system morphology		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003826	abnormal Mullerian duct morphology	"malformation of the transient embryonic tubes that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004110	transposition of great arteries	"cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004599	abnormal vertebral arch morphology	"any structural anomaly 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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004665	abnormal stapedial artery morphology	"any structural abnormality in the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004666	absent stapedial artery	"absence of the small artery that passes through the ring of the stapes" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004686	decreased length of long bones	"reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0006425	absent Mullerian ducts	"absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [J:40605, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0008023	abnormal styloid process morphology	"any structural abnormality in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0008128	abnormal brain internal capsule morphology	"any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0008923	thoracoschisis	"congenital fissure of the chest wall" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0009820	abnormal liver vasculature morphology	"any structural anomaly of the blood vessel network of the bile-secreting exocrine gland" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010439	abnormal hepatic vein morphology	"any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010602	abnormal pulmonary valve cusp morphology	"any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013155	decreased KLRG1+ CD8 alpha beta T cell number	"decrease in the number of CD8+ alpha beta T cells that express KLRG1, a marker of effector and memory T cells" [MGI:csmith]	Show Allelic Composition: Grin2b^{tm1e.1(KOMP)Wtsi}/Grin2b⁺ Genetic Background: C57BL/6N-Grin2b^{tm1e.1(KOMP)Wtsi}/Tcp
MP:0013824	abnormal hypoglossal canal morphology	"any structural anomaly of the bony canal in the occipital bone through which the hypoglossal nerve emerges from the skull" [ISBN:0683400088]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013836	abnormal hypoglossal nerve topology	"abnormal position of the hypoglossal nerve " [MGI:csmith]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013864	enlarged paraumbilical vein	"increased size of one or more of small superficial veins that run from the umbilicus along the round ligament of the liver and terminate as accessory portal veins in the liver" [ISBN:0-683-40008-8, PMID:7400038]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013871	abnormal stapedial artery topology	"abnormal location or orientation of the small artery that passes through the ring of the stapes; while the stapedial artery is a temporary artery thought to disappear at late embryonic stage in humans, the mouse stapedial artery is complete by E13 and persists into adulthood" [MGI:Anna]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013936	abnormal thymus topology	"of the primary lymphoid organ that is required for maturation of T cells and secretion of thymosins, hormones that stimulate the development of antibodies" [MGI:csmith]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013966	abnormal infrahyoid muscle morphology		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013967	abnormal infrahyoid muscle connection		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013968	multiple persisting craniopharyngeal ducts		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013969	reduced sympathetic cervical ganglion size		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013971	blood in lymph vessels		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013977	symmetric azygos veins		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013985	abnormal umbilical vein topology	"abnormal position of the umbilical vein in relationship to other umbilical cord structures" [MGI:csmith]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{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: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013992	persistent dorsal ophthalmic artery		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0013996	abnormal vertebral artery origin		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014006	absent posterior communicating artery		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014018	embryo tumor	"presence of an unspecified tumor or aberrant growth in a prenatal orgnaism" [MGI:csmith]	Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014021	heterochrony		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd
MP:0014023	abnormal intestine placement		Show Allelic Composition: Fzd4^{tm1.1(KOMP)Vlcg}/Fzd4^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Fzd4^{tm1.1(KOMP)Vlcg}/Ucd

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr