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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal erythrocyte morphology
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Accession:MP:0002447 term browser browse the term
Definition:any structural anomaly of a mature red blood cell, an ennucleate biconcave disk about 7 micrometers in diameter that contains hemoglobin confined within a lipid membrane; it is the major cellular element of the circulating blood and transports oxygen as its principal function
Synonyms:exact_synonym: abnormal red blood cell morphology;   abnormal red corpuscle morphology;   erythrocyte abnormalities;   red blood cell abnormalities
 narrow_synonym: abnormal definitive erythrocyte
 alt_id: MP:0002124
 xref: MGI:2173584


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decreased erythrocyte cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G F8 coagulation factor VIII IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G Kit KIT proto-oncogene receptor tyrosine kinase IMP RGD PMID:1912576 RGD:5133424 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 IMP RGD PMID:1912576 RGD:5133424
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:24244710 PMID:23799078 RGD:12880447, RGD:13462048 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24244710 RGD:12880447
decreased hematocrit term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP compared to PKD RGD PMID:7933831 RGD:1300446 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IAGP compared to PKD RGD PMID:7933831 RGD:1300446
G F8 coagulation factor VIII IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G Fh fumarate hydratase IMP RGD PMID:27556703 RGD:13792708 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Fhem1 fumarate hydratase; TALEN induced mutant 1 IMP RGD PMID:27556703 RGD:13792708
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
decreased hemoglobin content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G Lrrk2 leucine-rich repeat kinase 2 IMP RGD PMID:23799078 RGD:13462048 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:23799078 RGD:13462048
decreased mean corpuscular volume term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IAGP compared to Gunn rats RGD PMID:20323028 RGD:1354701 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant IAGP compared to Gunn rats RGD PMID:20323028 RGD:1354701
increased glycosylated hemoglobin level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719 		JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
increased hematocrit term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IMP RGD PMID:23753405 RGD:13782272 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj1em1Kasu potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu IMP RGD PMID:23753405 RGD:13782272
increased mean corpuscular hemoglobin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
increased mean corpuscular volume term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP compared to Hsd:SD RGD PMID:23859880 RGD:13204753
increased red blood cell distribution width term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5374
    hematopoietic system phenotype 243
      abnormal hematopoietic system morphology/development 223
        abnormal hematopoietic cell morphology 179
          abnormal blood cell morphology 96
            abnormal erythrocyte morphology 42
              abnormal erythrocyte cell number + 12
              abnormal erythrocyte ion content + 1
              abnormal erythrocyte magnesium level + 0
              abnormal erythrocyte potassium level + 0
              abnormal erythrocyte sodium level + 1
              abnormal erythropoiesis + 0
              abnormal fetal derived definitive erythrocyte morphology + 0
              abnormal hematocrit + 21
              abnormal hemoglobin + 17
              abnormal mean corpuscular volume + 7
              abnormal nucleated erythrocyte cell number + 0
              abnormal red blood cell deformability 0
              abnormal red blood cell distribution width + 3
              acanthocytosis 0
              anisopoikilocytosis 0
              dacryocytosis 0
              echinocytosis 0
              elliptocytosis 0
              hyperchromasia 0
              increased erythrocyte protoporphyrin level 0
              increased number of Heinz bodies 0
              increased number of Howell-Jolly bodies 0
              increased siderocyte number 0
              leptocytosis 0
              macrocytosis 0
              microcytosis 0
              poikilocytosis + 0
              polychromatophilia 0
              spherocytosis 0
              stomatocytosis 0
Path 2
Term Annotations click to browse term
  mammalian phenotype 5374
    hematopoietic system phenotype 243
      abnormal hematopoietic system morphology/development 223
        abnormal hematopoietic cell morphology 179
          abnormal myeloid cell morphology 102
            abnormal erythroid lineage cell morphology 42
              abnormal erythrocyte morphology 42
                abnormal erythrocyte cell number + 12
                abnormal erythrocyte ion content + 1
                abnormal erythrocyte magnesium level + 0
                abnormal erythrocyte potassium level + 0
                abnormal erythrocyte sodium level + 1
                abnormal erythropoiesis + 0
                abnormal fetal derived definitive erythrocyte morphology + 0
                abnormal hematocrit + 21
                abnormal hemoglobin + 17
                abnormal mean corpuscular volume + 7
                abnormal nucleated erythrocyte cell number + 0
                abnormal red blood cell deformability 0
                abnormal red blood cell distribution width + 3
                acanthocytosis 0
                anisopoikilocytosis 0
                dacryocytosis 0
                echinocytosis 0
                elliptocytosis 0
                hyperchromasia 0
                increased erythrocyte protoporphyrin level 0
                increased number of Heinz bodies 0
                increased number of Howell-Jolly bodies 0
                increased siderocyte number 0
                leptocytosis 0
                macrocytosis 0
                microcytosis 0
                poikilocytosis + 0
                polychromatophilia 0
                spherocytosis 0
                stomatocytosis 0
paths to the root