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
Accession: MP:0013657
browse the term
Definition: any structural anomaly of cells found in the blood
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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
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:17434290
RGD:15036800
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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
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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
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Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
RGD
PMID:18983523
RGD:2324691
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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
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KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
IMP
RGD
PMID:1912576
RGD:5133424
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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
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Pon1em1Lizh
paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh
IMP
compared to SD
RGD
PMID:30262871
RGD:45073131
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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
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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
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Dpp4DPPIV
dipeptidylpeptidase 4; DPPIV mutant
IAGP
compared to DA/Ztm
RGD
PMID:19327106
RGD:41408336
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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
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Fhem1
fumarate hydratase; TALEN induced mutant 1
IMP
RGD
PMID:27556703
RGD:13792708
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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
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Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:23799078
RGD:13462048
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
IMP
RGD
PMID:28212662
RGD:13792592
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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
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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
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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
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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
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KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
IMP
RGD
PMID:1912576
RGD:5133424
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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
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Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24244710
RGD:12880447
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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
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Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
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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
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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
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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
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Fhem1
fumarate hydratase; TALEN induced mutant 1
IMP
RGD
PMID:27556703
RGD:13792708
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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
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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
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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
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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
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Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:23799078
RGD:13462048
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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
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Ugt1a1j
UDP glucuronosyltransferase family 1 member A1, jaundice mutant
IAGP
compared to Gunn rats
RGD
PMID:20323028
RGD:1354701
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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
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Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
RGD
PMID:9250486
RGD:1302447
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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
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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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
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Atmm1Kyo
ATM serine/threonine kinase; ENU induced mutant 1, Kyo
IMP
RGD
PMID:27895165
RGD:12879393
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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
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Cybam1Sdi
cytochrome b-245 alpha chain;mutant 1,Sdi
IAGP
compared to BN/SsN
RGD
PMID:21512270
RGD:5134988
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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
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Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
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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
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:30249809
RGD:41404725
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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
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Pon1em1Lizh
paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh
IMP
in peripheral blood, compared to SD
RGD
PMID:30262871
RGD:45073131
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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
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Kcnj1em1Kasu
potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu
IMP
RGD
PMID:23753405
RGD:13782272
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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
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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
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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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
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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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
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Ccdc39em1Jgn
coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn
IMP
RGD
PMID:31771992
RGD:150521527
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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
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Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
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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
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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
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Sh2b3em2Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:25628389
RGD:12904914
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
IMP
RGD
PMID:28212662
RGD:13792592
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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
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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
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Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
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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
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F8em1Sage
coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:24931420
RGD:11530071
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