ENSMUSG00000021665


Mus musculus

Features
Gene ID: ENSMUSG00000021665
  
Biological name :Hexb
  
Synonyms : Beta-hexosaminidase subunit beta / Hexb / P20060
  
Possible biological names infered from orthology : hexosaminidase subunit beta / P07686
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: D1
Gene start: 97176331
Gene end: 97198357
  
Corresponding Affymetrix probe sets: 10411373 (MoGene1.0st)   1437874_s_at (Mouse Genome 430 2.0 Array)   1460180_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000022169
NCBI entrez gene - 15212     See in Manteia.
MGI - MGI:96074
RefSeq - NM_010422
RefSeq Peptide - NP_034552
swissprot - P20060
swissprot - Q3TXR9
Ensembl - ENSMUSG00000021665
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hexbENSDARG00000034368Danio rerio
 HEXBENSGALG00000014933Gallus gallus
 HEXBENSG00000049860Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hexa / P29416 / Beta-hexosaminidase subunit alpha / P06865* / AC009690.1* / hexosaminidase subunit alpha*ENSMUSG0000002523252


Protein motifs (from Interpro)
Interpro ID Name
 IPR015883  Glycoside hydrolase family 20, catalytic domain
 IPR017853  Glycoside hydrolase superfamily
 IPR025705  Beta-hexosaminidase
 IPR029018  Beta-hexosaminidase-like, domain 2
 IPR029019  Beta-hexosaminidase, eukaryotic type, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IGI
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006687 glycosphingolipid metabolic process IMP
 biological_processGO:0006689 ganglioside catabolic process IMP
 biological_processGO:0006874 cellular calcium ion homeostasis IMP
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007338 single fertilization IMP
 biological_processGO:0007341 penetration of zona pellucida IMP
 biological_processGO:0007605 sensory perception of sound IGI
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0008049 male courtship behavior IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0008654 phospholipid biosynthetic process IMP
 biological_processGO:0009313 oligosaccharide catabolic process IMP
 biological_processGO:0019915 lipid storage IMP
 biological_processGO:0019953 sexual reproduction IMP
 biological_processGO:0030203 glycosaminoglycan metabolic process IGI
 biological_processGO:0031323 regulation of cellular metabolic process IMP
 biological_processGO:0042552 myelination IGI
 biological_processGO:0043615 astrocyte cell migration IMP
 biological_processGO:0044267 cellular protein metabolic process IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0048477 oogenesis IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0050905 neuromuscular process IMP
 cellular_componentGO:0001669 acrosomal vesicle IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0042582 azurophil granule IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0004563 beta-N-acetylhexosaminidase activity IMP
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IDA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0102148 N-acetyl-beta-D-galactosaminidase activity IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism
Keratan sulfate degradation
CS/DS degradation
Hyaluronan uptake and degradation
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000242 impaired fertilization "defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronucei" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000458 abnormal mandible morphology "malformation 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]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbmpc191H/Hexbmpc191H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [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: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: B4galnt1tm1Rlp/B4galnt1+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: Fcer1gtm1Rav/Fcer1gtm1Rav,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

 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: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl3tm1Unc/Ccl3tm1Unc,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Ccl3tm1Unc/Ccl3+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: B4galnt1tm1Rlp/B4galnt1+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fcer1gtm1Rav/Fcer1gtm1Rav,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001650 electrically induced seizures "high or low frequency electrical stimulation applied to induce seizure activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, wf:Wayne Frankel , TJL staff]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 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: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 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: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

Allelic Composition: Hexbtm1Rlp/Hexb+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Fcer1gtm1Rav/Fcer1gtm1Rav,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Ccl3tm1Unc/Ccl3tm1Unc,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Ccl3tm1Unc/Ccl3+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [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: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002461 increased circulating immunoglobulin concentration "greater than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fcer1gtm1Rav/Fcer1gtm1Rav,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Grv/Hexatm1Grv
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0002631 abnormal epididymis morphology "malformation of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002862 altered righting response "altered ability or changed amount of time needed to recover from supine position" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl3tm1Unc/Ccl3tm1Unc,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Ccl3tm1Unc/Ccl3+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0003632 abnormal nervous system morphology 
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0003807 camptodactyly "permanant flexion of one or more digits; contractures may also be seen in the wrists and at the elbows" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0004143 hypertonia "increased muscle tone" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0004676 wide ribs "an increase in the width of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004728 abnormal efferent ductules of testis "any structural abnormality in the small seminal ducts that lead from the testis to the head of the epididymis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

 MP:0004928 increased epididymis weight "increase in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0005156 bradykinesia "decreased spontaneity and movement" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83301]
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Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0006043 decreased apoptosis "less than normal cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fcer1gtm1Rav/Fcer1gtm1Rav,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0006082 CNS inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Ccl3tm1Unc/Ccl3tm1Unc,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008151 increased diameter of long bones "increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008602 increased circulating interleukin-4 level "increase in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008752 abnormal tumor necrosis factor level "deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [MESH:D12.644.276.374.500.800]
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Allelic Composition: Ccl3tm1Unc/Ccl3tm1Unc,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp,Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0009249 enlarged caput "increase in the average size of the head of the epididymis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0009256 enlarged corpus "increase in the average size of the body of the epididymis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Grv/Hexbtm1Grv
Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

 MP:0009640 abnormal renal tubule epithelium morphology "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011473 increased urine glycosaminoglycan level "greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0012504 increased forebrain apoptosis "increase in the number of cells of the forebrain undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0030189 broad snout "increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:anna]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0030262 frontal bossing "bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline; this is not the same as prominent forehead" [HP:0002007, PMID:19125436]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021665 Hexb / P20060 / Beta-hexosaminidase subunit beta / P07686* / hexosaminidase subunit beta*  / complex
 ENSMUSG00000000594 Gm2a / Q60648 / Ganglioside GM2 activator / P17900* / GM2 ganglioside activator*  / reaction
 ENSMUSG00000025232 Hexa / P29416 / Beta-hexosaminidase subunit alpha / P06865* / AC009690.1* / hexosaminidase subunit alpha*  / complex






 

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