ENSMUSG00000022265


Mus musculus

Features
Gene ID: ENSMUSG00000022265
  
Biological name :Ank
  
Synonyms : Ank / Progressive ankylosis protein / Q9JHZ2
  
Possible biological names infered from orthology : ANKH / ANKH inorganic pyrophosphate transport regulator / Q9HCJ1
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: B1
Gene start: 27466677
Gene end: 27594909
  
Corresponding Affymetrix probe sets: 10423363 (MoGene1.0st)   1450627_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000022875
NCBI entrez gene - 11732     See in Manteia.
MGI - MGI:3045421
RefSeq - NM_020332
RefSeq Peptide - NP_065065
swissprot - Q3UG85
swissprot - Q9JHZ2
Ensembl - ENSMUSG00000022265
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ankhaENSDARG00000071724Danio rerio
 ankhbENSDARG00000014969Danio rerio
 ANKHENSGALG00000012964Gallus gallus
 ANKHENSG00000154122Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR009887  Progressive ankylosis


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006817 phosphate ion transport IEA
 biological_processGO:0030500 regulation of bone mineralization IMP
 biological_processGO:0030505 inorganic diphosphate transport IEA
 biological_processGO:0035435 phosphate ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 molecular_functionGO:0005315 inorganic phosphate transmembrane transporter activity ISO
 molecular_functionGO:0015114 phosphate ion transmembrane transporter activity IEA
 molecular_functionGO:0030504 inorganic diphosphate transmembrane transporter activity IDA


Pathways (from Reactome)
Pathway description
Miscellaneous transport and binding events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0000079 abnormal basioccipital bone morphology "malformed basilar process of the occipital bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13-Ank*G389R)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0000135 reduced cortical bone thickness "thinner than normal superficial layer of compact bone " [J:61509]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13-Ank*G389R)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0000163 abnormal cartilage morphology "anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Mmp13tm1Jdar/Mmp13tm1Jdar,Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13-Ank*G389R)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

Allelic Composition: Anktm1.1Ejr/Ank+
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0000997 abnormal joint capsule morphology "anomalous structure of the sac that encloses the articulating ends of bones participating in a synovial joint " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0001570 abnormal circulating enzyme level "aberrent concentration in the blood of any of the proteins that act as catalysts for biological reactions" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0001765 abnormal ion homeostasis "anomaly in the state of equilibrium in the body with respect to charged molecules in the fluids and tissues" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 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: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 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]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1Kng/Ank+,Tg(Gdf5-cre-ALPP)1Kng/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13-Ank*M48T)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng,Tg(282M13-Ank*G389R)1Kng/?
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0002993 arthritis "joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0003189 fused joints 
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1Kng/Ank+,Tg(Gdf5-cre-ALPP)1Kng/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0003200 joint calcification "pathologic deposition of calcium salts in the joints" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0003740 fusion of middle ear ossicles "union of the three small bones of the middle ear into a single structure " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0003795 abnormal bone structure 
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0003930 abnormal tooth hard tissue morphology "defects in the hard portion of the tooth surrounding the pulp, including the dentin, enamel and the cementum on the root" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0003933 abnormal cementum morphology "defects in the bonelike rigid connective tissue covering the root of a tooth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1Kng/Ank+,Tg(Gdf5-cre-ALPP)1Kng/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0004173 abnormal intervertebral disk morphology "malformation of the cartilagenous and gelatinous structure found between vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mmp13tm1Jdar/Mmp13tm1Jdar,Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

 MP:0004685 intervertebral calcification "process in which the cartilaginous and gelatinous structure found between vertebrae becomes hardened due to deposits of calcium salts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mmp13tm1Jdar/Mmp13tm1Jdar,Mmp9tm1Tvu/Mmp9tm1Tvu
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

 MP:0005006 abnormal osteoblast function "anomalous function of this bone-forming cell, which normally forms an osseous matrix in which it becomes enclosed as an osteocyte " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Enpp1tm1Gdg/Enpp1tm1Gdg
Genetic Background: involves: 129S1/Sv

 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: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0005503 abnormal tendon morphology "structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0005504 abnormal ligament morphology "structural anomaly of the flexible bands of fibrous tissue that connect the articular extremities of bones " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0006433 abnormal articular cartilage morphology "any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone" [ISBN:0-8036-0655-9 "Taber s Cyclopedic Medical Dictionary", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Anktm1Kng/Ank+,Tg(Gdf5-cre-ALPP)1Kng/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0008069 abnormal joint mobility "anomaly in the ability to move joints in a full range of motion and with ease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1Kng/Ank+,Tg(Gdf5-cre-ALPP)1Kng/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0008158 increased diameter of femur "increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0008396 abnormal osteoclast differentiation "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

Allelic Composition: Anktm1.1Ejr/Ank+
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0009005 abnormal sesamoid bone of gastrocnemius morphology "any structural anomaly of the small sesamoid bones situated behind the condyles of the femur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Aqp5tm1Amn/Aqp5tm1Amn
Genetic Background: involves: 129X1/SvJ * Black Swiss

Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0010522 aorta calcification "pathologic deposition of calcium salts in the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Enpp1tm1Gdg/Enpp1tm1Gdg
Genetic Background: involves: 129S1/Sv

 MP:0010879 decreased trabecular bone volume "decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0010933 decreased trabecular bone connectivity density "reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523 "Principles of bone biology, Volume 1, Bilezikian, JP et al, eds"]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0010941 abnormal foramen magnum morphology "any structural anomaly of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030094 foramen magnum stenosis "abnormal narrowing or constriction of the large orifice in the occipital bone through which the spinal cord passes to the cranial cavity and becomes continuous with the medulla oblongata" [MGI:anna]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0030110 incudomalleolar fusion "bony fusion of the incus and the malleus into a single structure" [MGI:anna]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030160 abnormal auditory bulla morphology "any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone" [https://en.wikipedia.org/wiki/Tympanic_part_of_the_temporal_bone]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0030222 hyperostosis "excessive growth or abnormal thickening of bone tissue; it may lead to exostosis" [HP:0100774, https://en.wikipedia.org/wiki/Hyperostosis]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030223 mandibular hyperostosis "hyperostosis (bony overgrowth) of the mandible" [HP:0004472]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030278 thick neurocranium "increased thickness of the bones of the skull enclosing the brain" [MGI:anna]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030310 abnormal cranial foramen morphology "any structural anomaly of any of the openings or orifices (foramina) in the skull through which cranial nerves, arteries, veins and other structures pass into and out of the cranium" [https://en.wikipedia.org/wiki/List_of_foramina_of_the_human_body, https://radiopaedia.org/articles/cranial-foramina]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030319 abnormal temporal bone petrous part morphology "any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium" [https://en.wikipedia.org/wiki/Petrous_part_of_the_temporal_bone]
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Allelic Composition: Anktm1.1Kng/Anktm1.1Kng
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

 MP:0030382 absent paranasal sinus "missing one or more of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity" [MGI:anna]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

 MP:0030417 craniofacial hyperostosis "excessive growth of the craniofacial bones" [HP:0004493]
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Allelic Composition: Anktm1.1Ejr/Anktm1.1Ejr
Genetic Background: B6.129-Anktm1.1Ejr

  


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






 

0 s.

 
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