ENSMUSG00000033540


Mus musculus

Features
Gene ID: ENSMUSG00000033540
  
Biological name :Idua
  
Synonyms : Idua / iduronidase, alpha-L-
  
Possible biological names infered from orthology : P35475
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 108660331
Gene end: 108684557
  
Corresponding Affymetrix probe sets: 10524034 (MoGene1.0st)   1418793_at (Mouse Genome 430 2.0 Array)   1439251_at (Mouse Genome 430 2.0 Array)   1449230_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000071577
Ensembl peptide - ENSMUSP00000113190
Ensembl peptide - ENSMUSP00000117694
Ensembl peptide - ENSMUSP00000119624
Ensembl peptide - ENSMUSP00000108182
NCBI entrez gene - 15932     See in Manteia.
MGI - MGI:96418
RefSeq - XM_006534799
RefSeq - NM_008325
RefSeq - NM_172997
RefSeq - XM_006534797
RefSeq - XM_006534798
RefSeq Peptide - NP_766585
RefSeq Peptide - NP_032351
swissprot - Q8BLF6
swissprot - D6RIN7
swissprot - Q8BMG0
swissprot - D6REH5
Ensembl - ENSMUSG00000033540
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 iduaENSDARG00000062904Danio rerio
 IDUAENSGALG00000015376Gallus gallus
 IDUAENSG00000127415Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000514  Glycoside hydrolase, family 39
 IPR013783  Immunoglobulin-like fold
 IPR017853  Glycoside hydrolase superfamily
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006027 glycosaminoglycan catabolic process IEA
 biological_processGO:0030209 dermatan sulfate catabolic process IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0030135 coated vesicle IEA
 molecular_functionGO:0003940 L-iduronidase activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
HS-GAG degradation
CS/DS degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000018 small ears "outer ears of a smaller than normal size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0000136 abnormal microglial cell morphology "anomalous structure, number, or composition of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:71688]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000346 broad head "a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000441 wide skull 
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000731 increased collagen deposition in the muscles "accumulation of collagen within the muscles" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001300 ocular hypertelorism "increased distance between the eyes " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001385 pup cannibalization "the killing and eating of newborn mice by the mother; can be a normal response if the mother does not recognize the pups as her own" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

 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: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001462 abnormal avoidance learning behavior "defects in the ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001764 abnormal homeostasis "anomaly in the state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0001850 otitis media "middle ear inflammation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0002063 abnormal learning/memory/conditioning "altered ability to receive, store or recall informational stimuli" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 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: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 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: Chrm3tm1Jwe/Chrm3tm1Jwe
Genetic Background: 129S6/SvEvTac-Chrm3tm1Jwe

 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: Chrm3tm1Jwe/Chrm3tm1Jwe
Genetic Background: 129S6/SvEvTac-Chrm3tm1Jwe

 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: Chrm3tm1Jwe/Chrm3tm1Jwe
Genetic Background: 129S6/SvEvTac-Chrm3tm1Jwe

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0002624 abnormal tricuspid valve morphology "malformation of the valve with three cusps located between the right atrium and the right ventricle of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0002747 abnormal aortic valve morphology "malformation of the valve between the left ventricle and the ascending aorta" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002953 thick ventricular wall "increased depth of the cardiac wall of the heart ventricles" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0003211 abnormal aorta elastic fiber morphology "malformation of a slender connective tissue fiber in aortic tissue characterized by great elasticity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003393 decreased cardiac output "reduction in the blood volume pumped by each ventricle per minute" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

 MP:0003691 abnormal microglial cell function "anomalous activity of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003898 abnormal QRS complex "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarise prior to their contraction" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003915 increased left ventricle weight "greater than average weight of the left ventricle compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003929 decreased heart rate variability "reduced variation of beat-to-beat intervals of the heart, usually indicitive of cardiac disease" [RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004071 prolonged P wave "increase in the length of time of the P wave electrical impulses" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004077 abnormal striatum morphology "malformation of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0004084 abnormal cardiac muscle relaxation "altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0004214 abnormal long bone diaphysis morphology "any structural anomaly of the main or mid section (shaft) of a long bone" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [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: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004595 abnormal mandibular condyloid process morphology "any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004864 spiral ligament degeneration "degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0004988 increased osteoblast cell number "greater than average number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005266 abnormal metabolism "anomalous chemical and physical changes occurring in tissue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0005270 abnormal zygomatic bone morphology "anomalous structure of the bone that forms the prominence of the cheek" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0005277 abnormal brainstem morphology "anomalous structure of the midbrain, pons, or medulla" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82670]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0005459 decreased percent body fat "less fat, relative to the norm, as a percentage of total body weight" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0005534 decreased body temperature "less than the level of heat natural to a living being" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0006033 abnormal external auditory canal "malformation of the canal that connects the outer and middle ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0006045 mitral valve insufficiency "the mitral valve does not close tightly enough to prevent leakage" [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0006047 aortic valve insufficiency "the aortic valve does not close tightly enough to prevent leakage. " [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006144 increased systolic blood pressure "abnormal increase in the pressure in the arteries as the heart contracts and pumps blood into the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0006198 enophthalmos "sinking or retraction of the eye back into the socket" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 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: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0008432 abnormal long-term spatial reference memory "anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

 MP:0009840 abnormal foam cell morphology "any structural anomaly of a cell with a vacuolated appearance due to abnormal deposition and retention of lipoproteins, and typically seen in atherolosclerotic lesions, as well as other conditions, and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow" [CL:0000891, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0009865 abnormal aorta smooth muscle morphology "any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0010029 abnormal basicranium morphology "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0010179 rough coat "coat does not have the usual smooth appearance" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Id4tm1Fsky/Id4tm1Fsky
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0010429 abnormal heart left ventricle outflow tract morphology "any structural anomaly of the anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0010508 abnormal heart electrocardiography waveform feature "any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:20410536]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0010724 thick interventricular septum "increased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0011020 abnormal circadian temperature homeostasis "any anomaly in the process in which an organism modulates its internal body temperature at different values with a regularity of approximately 24 hours" [GO:0060086]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0011021 abnormal circadian regulation of heart rate "anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours" [GO:0003053]
Show

Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 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: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: B6.129-Iduatm1Clk/J

Allelic Composition: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0020467 abnormal circadian behavior "any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours" [GO:0048512]
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Allelic Composition: Itgb2tm1Bay/Itgb2tm1Bay
Genetic Background: involves: 129S7/SvEvBrd * PL/J

 MP:0030037 prominent nasal bridge "anterior positioning of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose in comparison to the usual positioning for age" [HP:0000426]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030069 broad face "increased width of the upper and lower face" [MGI:anna]
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Allelic Composition: Iduatm1Clk/Iduatm1Clk
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Iduatm1.1Kmke/Iduatm1.1Kmke
Genetic Background: B6.129-Iduatm1.1Kmke

  


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






 

0 s.

 
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