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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 blood cell morphology
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Accession:MP:0013657 term browser browse the term
Definition:any structural anomaly of cells found in the blood


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abnormal CD4-positive T cell differentiation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP RGD PMID:17434290 RGD:15036800 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:17434290 RGD:15036800
G Ptprk protein tyrosine phosphatase, receptor type, K IAGP RGD PMID:17434290 RGD:15036800 NCBI chr 1:16,738,896...17,236,687
Ensembl chr 1:16,850,576...17,103,605 		JBrowse link
abnormal platelet dense granule number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:18983523 RGD:2324691 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:18983523 RGD:2324691
absent mast cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
arrested T cell differentiation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pon1 paraoxonase 1 IMP compared to SD RGD PMID:30262871 RGD:45073131 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon1em1Lizh paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh IMP compared to SD RGD PMID:30262871 RGD:45073131
decreased double-positive T cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag2 recombination activating 2 IMP RGD PMID:30206106 RGD:38508903 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
decreased eosinophil cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp4 dipeptidylpeptidase 4 IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336 NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901 		JBrowse link
G Dpp4DPPIV dipeptidylpeptidase 4; DPPIV mutant IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336
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 7:122,826,696...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 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 7:122,826,696...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 7:122,826,696...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 7:122,826,696...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
decreased platelet serotonin level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:9250486 RGD:1302447 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:9250486 RGD:1302447
increased basophil cell number 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 double-positive T cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP RGD PMID:27895165 RGD:12879393 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
increased eosinophil cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain IAGP compared to BN/SsN RGD PMID:21512270 RGD:5134988 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP compared to BN/SsN RGD PMID:21512270 RGD:5134988
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 granulocyte number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
G Pon1 paraoxonase 1 IMP in peripheral blood, compared to SD RGD PMID:30262871 RGD:45073131 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon1em1Lizh paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh IMP in peripheral blood, compared to SD RGD PMID:30262871 RGD:45073131
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 mast cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 IAGP DNA:missense mutation:cds:G1717T (rat) RGD PMID:16858425 RGD:150520053 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
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 neutrophil cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Cftr CF transmembrane conductance regulator IMP RGD PMID:24608905 RGD:11566051 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
G P2ry2 purinergic receptor P2Y2 IMP RGD PMID:19155635 RGD:2316657 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25628389 RGD:12904914 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sh2b3em2Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:25628389 RGD:12904914
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
thrombocytopenia 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
thrombocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII IMP as compared to wild type Sprague Dawley RGD PMID:24931420 RGD:11530071 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:24931420 RGD:11530071
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Term Annotations click to browse term
  mammalian phenotype 5380
    hematopoietic system phenotype 244
      abnormal hematopoietic system morphology/development 224
        abnormal hematopoietic cell morphology 180
          abnormal blood cell morphology 96
            abnormal erythrocyte morphology + 42
            abnormal granulocyte morphology + 43
            abnormal hemopoiesis + 18
            abnormal platelet morphology + 13
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