ENSMUSG00000049488


Mus musculus

Features
Gene ID: ENSMUSG00000049488
  
Biological name :Tmem67
  
Synonyms : Tmem67 / transmembrane protein 67
  
Possible biological names infered from orthology : Q5HYA8
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: A1
Gene start: 12039355
Gene end: 12090020
  
Corresponding Affymetrix probe sets: 10511588 (MoGene1.0st)   1453492_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000052644
Ensembl peptide - ENSMUSP00000115154
Ensembl peptide - ENSMUSP00000103928
NCBI entrez gene - 329795     See in Manteia.
MGI - MGI:1923928
RefSeq - XM_006538008
RefSeq - NM_177861
RefSeq - XM_006538007
RefSeq Peptide - NP_808529
swissprot - E9QNI1
swissprot - A2AJP5
swissprot - D6RGQ2
Ensembl - ENSMUSG00000049488
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tmem67ENSDARG00000076752Danio rerio
 ENSGALG00000029287Gallus gallus
 Q5HYA8ENSG00000164953Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR019170  Meckelin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010826 negative regulation of centrosome duplication IEA
 biological_processGO:0030433 ubiquitin-dependent ERAD pathway IEA
 biological_processGO:0060271 cilium assembly IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0035869 ciliary transition zone IEA
 cellular_componentGO:0036038 MKS complex IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0031005 filamin binding IEA
 molecular_functionGO:0051082 unfolded protein binding IEA


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000829 dilated fourth ventricle "enlarged irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000866 vermis hypoplasia "reduced cell number in the vermis" [J:61509]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000923 abnormal roof plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the dorsal midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0001704 abnormal dorsal-ventral axis patterning "anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 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]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0003632 abnormal nervous system morphology 
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0003864 abnormal midbrain development "anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0003943 abnormal liver/biliary system development "developmental anomaly of any of the tissues of the liver or biliary system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

Allelic Composition: Tmem67b2b1291.1Clo/Tmem67b2b1291.1Clo
Genetic Background: C57BL/6J-Tmem67b2b1291.1Clo

 MP:0004157 interrupted aortic arch "complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 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]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0006007 abnormal basal ganglion morphology "malformation or absence of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0006100 abnormal tegmentum morphology "any structural alterations or malfunction of the floor of the midbrain which extends from the substantia nigra to the level of the cerebral aqueduct." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0008227 absent anterior commissure "absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0008282 enlarged hippocampus "increased size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

Allelic Composition: Tmem67b2b1291.1Clo/Tmem67b2b1291.1Clo
Genetic Background: C57BL/6J-Tmem67b2b1291.1Clo

 MP:0009689 abnormal neural tube ventricular layer morphology "any structural anomaly of the layer of undifferentiated, proliferating cells that line the neural tube lumen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0009929 meningomyelocele "hernial protrusion of the spinal cord and its meninges through an opening or defect in the vertebral column" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 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]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

 MP:0010422 heart right ventricle hypoplasia "underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rag1tm1Mom/Rag1tm1Mom,Rasa3scat/Rasa3scat
Genetic Background: involves: 129S7/SvEvBrd * BALB/cBy

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmem67b2b1291.1Clo/Tmem67b2b1291.1Clo
Genetic Background: C57BL/6J-Tmem67b2b1291.1Clo

 MP:0011056 abnormal brain ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 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]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0011253 situs inversus with levocardia "situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Tmem67b2b1291.1Clo/Tmem67b2b1291.1Clo
Genetic Background: C57BL/6J-Tmem67b2b1291.1Clo

 MP:0011256 abnormal neural fold morphology "any structural anomaly of the elevated margins of the neural groove" [ISBN:0-683-40008-8]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0012138 decreased forebrain size "size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0012139 increased forebrain size "greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0012260 encephalomeningocele "hernial protrusion of the brain and its meninges through an opening or defect in the skull, most often occuring in the occipital region" [ISBN:0-683-40008-8]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 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]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0030309 abnormal posterior cranial fossa morphology "any structural anomaly of the most inferior and deepest of the cranial fossae, located between the foramen magnum and tentorium cerebelli, which houses the brainstem and cerebellum; it is bounded anteriorly and medially by the dorsum sellae of the sphenoid bone; anteriorly and laterally by the superior border of the petrous part of the temporal bone; and posteriorly by the internal surface of the squamous part of the occipital bone; its floor consists of the mastoid part of the temporal bone and the squamous, condylar and basilar parts of the occipital bone" [http://teachmeanatomy.info/head/areas/cranial-fossa/posterior/, https://radiopaedia.org/articles/posterior-cranial-fossa]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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