ENSMUSG00000024613


Mus musculus

Features
Gene ID: ENSMUSG00000024613
  
Biological name :Tcof1
  
Synonyms : O08784 / Tcof1 / Treacle protein
  
Possible biological names infered from orthology : Q13428 / treacle ribosome biogenesis factor 1
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: E1
Gene start: 60813755
Gene end: 60848971
  
Corresponding Affymetrix probe sets: 10459109 (MoGene1.0st)   1423600_a_at (Mouse Genome 430 2.0 Array)   1423601_s_at (Mouse Genome 430 2.0 Array)   1424643_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000135295
Ensembl peptide - ENSMUSP00000130454
Ensembl peptide - ENSMUSP00000134755
Ensembl peptide - ENSMUSP00000135476
Ensembl peptide - ENSMUSP00000135639
NCBI entrez gene - 21453     See in Manteia.
MGI - MGI:892003
RefSeq - XM_011246875
RefSeq - NM_001198984
RefSeq - NM_011552
RefSeq - XM_006525777
RefSeq - XM_011246874
RefSeq Peptide - NP_001185913
RefSeq Peptide - NP_035682
swissprot - H3BL37
swissprot - H3BIX0
swissprot - O08784
swissprot - H3BK88
swissprot - F6R3V4
Ensembl - ENSMUSG00000024613
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 TCOF1ENSG00000070814Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003993  Treacher Collins syndrome, treacle
 IPR006594  LIS1 homology motif
 IPR017859  Treacle-like, Treacher Collins Syndrome


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006417 regulation of translation ISO
 biological_processGO:0014029 neural crest formation ISO
 biological_processGO:0014032 neural crest cell development ISS
 biological_processGO:0042790 nucleolar large rRNA transcription by RNA polymerase I IMP
 cellular_componentGO:0001650 fibrillar center ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005829 cytosol ISO
 molecular_functionGO:0001042 RNA polymerase I core binding ISO
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity ISO
 molecular_functionGO:0097110 scaffold protein binding ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000024 lowered ear position "outer ears which are situated below the normal location " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000030 abnormal tympanic ring morphology "malformed bony ring at the ear canal to which the tympanic membrane is attached" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000091 short premaxilla "reduced length of the anterior and interior portion of the maxilla" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000103 nasal bone hypoplasia "reduced cell number in the bone which forms the nasal bridge" [J:53370]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000107 abnormal frontal bone morphology "malformed bone forming the forehead and part of the eye orbit" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
Show

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000440 domed skull 
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0000457 maxilla hypoplasia "arrested growth or atrophy 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, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 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: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0000962 disorganized dorsal root ganglia "loss of segmentation pattern of DRGs; loss of regular spacing " [J:62022, J:62023]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0001065 abnormal trigeminal nerve morphology "malformed chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0001081 abnormal cranial ganglia morphology "any anomaly, deformity, or malformation of the groups of nerve cell bodies associated with the twelve cranial nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0001093 small trigeminal ganglion "reduced size of the trigeminal ganglion" [J:25565, J:17123]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 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: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * 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]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0002820 abnormal premaxilla morphology "malformation or absence of the anterior and inner portion of the maxilla" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:76662]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0003104 acrania "complete or partial absence of a skull; usually associated with anencephaly" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:33716]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 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: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0003735 cup-shaped ears "deeply concave appearance to the outer ear " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 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]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004282 retrognathia "abnormal posterior positioning of one or both jaws, particularly the mandible, relative to the facial skeleton and soft tissues" [J:41682, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004310 small otic vesicle "reduced size of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004376 absent frontal bone "absence of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004383 absent interparietal bone "absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004419 absent parietal bone "absence of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004424 temporal bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0004469 abnormal zygomatic arch morphology "any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004475 palatine bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in either of two irregularly shaped bones that form the back of the hard palate and helps to form the nasal cavity and the floor of the orbits" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0004570 absent glossopharyngeal nerve "absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004726 abnormal nasal capsule morphology "any structural abnormality in the cartilage around the developing nasal cavity of the embryo" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004837 abnormal neural fold formation "any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0004869 frontal bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the bone which forms the forehead and roof of the eye orbit" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0004871 premaxilla hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0004872 absent nasal septum "absence of the structure that separates the two nasal cavities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0004873 absent turbinates "absence of the small curved bones that extend horizontally along the lateral wall of the nasal passage" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0005249 abnormal palatine bone morphology "structural anomaly of the anteriorly located rigid section of the palate" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0005272 abnormal temporal bone morphology "anomalous structure of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 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]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0005657 abnormal neural plate morphology "malformation or absence of the neuroectodermal area of the embryo s dorsal surface that develops into the neural tube and neural crest" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator, J:68142]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0006294 absent optic vesicle "absence of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [J:94391, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0009843 decreased neural crest cell number "reduction in the number of ransient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0009886 failure of palatal shelf elevation "the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue" [PMID:16680722]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0009887 abnormal palatal shelf fusion at midline "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0009902 abnormal lateral nasal prominence morphology "any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0009903 abnormal medial nasal prominence morphology "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0010940 abnormal maxillary prominence morphology 
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0012505 increased neural tube apoptosis "increase in the number of cells of the neural tube undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0012523 abnormal upper lip morphology "any structural anomaly of the muscular fold forming the superior border of the mouth" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0012701 increased embryonic neuroepithelium apoptosis "increase in the number of cells of the embryonic neuroepithelium undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0012706 decreased embryonic neuroepithelial cell proliferation "decrease in the expansion rate of the cells of the embryonic neuroepithelium by cell division" [CL:0000710, MGI:anna]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0012757 abnormal cranial neural crest cell migration "any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage" [MGI:anna]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0012760 decreased cranial neural crest cell proliferation "reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division" [MGI:anna]
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Allelic Composition: Tcof1tm1Mjd/Tcof1+
Genetic Background: involves: C57BL/6 * DBA

 MP:0013267 first pharyngeal arch hypoplasia "underdevelopment or reduced size of the first pharyngeal arch, usually due to reduced cell number" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0013351 abnormal Rathke s pouch development "any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [MGI:Anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0030060 absent nasal pit "absence of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the frontonasal process and divide it into a medial and two lateral nasal processes" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0030084 tympanic ring hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the bony ring at the ear canal to which the tympanic membrane is attached" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0030124 middle ear ossicle hypoplasia "underdevelopment or reduced size of the three bones of the middle ear, usually due to reduced cell number" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0030250 frontonasal prominence hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0030377 zygomatic arch hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the bony arch that, in vertebrates, extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone" [MGI:anna]
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Allelic Composition: Sp5tm1Rbe/Sp5tm1Rbe,T/T+
Genetic Background: involves: 129P2/Ola * C57BL/6J

  


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






 

0 s.

 
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