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 cognition
Accession: MP:0014114
browse the term
Definition: any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory
Synonyms: narrow_synonym: Intellectual disability; Intellectual disability, severe
broad_synonym: Cognitive impairment
xref: HP:0001249; HP:0010864; HP:0100543
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Ccr3
C-C motif chemokine receptor 3
ameliorates
IMP
RGD
PMID:39156650
RGD:407571672
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
compared to wild type
RGD
PMID:34751141
RGD:405100968
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to wild type
RGD
PMID:34751141
RGD:405100968
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Drd2
dopamine receptor D2
IDA
decreased after administration of D2 antagonist
RGD
PMID:11311883
RGD:1581463
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Prkcz
protein kinase C, zeta
IDA
inhibition eliminates long term memory of taste aversion stimulus
RGD
PMID:17702943
RGD:1642657
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Cntnap2
contactin associated protein 2
IMP
in young animals
RGD
PMID:30126973
RGD:126790476
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Cntnap2em1Sage
contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
in young animals
RGD
PMID:30126973
RGD:126790476
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Nrg1
neuregulin 1
IMP
RGD
PMID:21620900
RGD:405650204
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrg1Tn(sb-T2/Bart3)2.183Mcwi
neuregulin 1; transposon insertion 2.183, Medical College of Wisconsin
IMP
RGD
PMID:21620900
RGD:405650204
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
RGD
PMID:36536454
RGD:401976434
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:36536454
RGD:401976434
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Nrxn1
neurexin 1
IMP
RGD
PMID:25420124
RGD:12914797
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Nrxn1em1
neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:25420124
RGD:12914797
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Comt
catechol-O-methyltransferase
TAS
RGD
PMID:12535946
RGD:704422
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
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Rin1
Ras and Rab interactor 1
IMP
RGD
PMID:32174475
RGD:126790555
NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
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Rin1em1Hcz
Ras and Rab interactor 1; TALEN induced mutant 1, Hcz
IMP
RGD
PMID:32174475
RGD:126790555
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Gnal
G protein subunit alpha L
IMP
RGD
PMID:31678405
RGD:150429833
NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
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Gnalem1Hpng
G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng
IMP
compared to wildtype controls
RGD
PMID:31678405
RGD:150429833
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Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
DNA:deletion:intron 7, exon 8:
RGD
PMID:30877790
RGD:38548928
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
DNA:deletion:intron 7, exon 8:
RGD
PMID:30877790
RGD:38548928
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Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
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Dpp4
dipeptidylpeptidase 4
IAGP
RGD
PMID:14568317
RGD:1626460
NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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Kdr
kinase insert domain receptor
IDA
RGD
PMID:15258583
RGD:1581594
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kdr
kinase insert domain receptor
IDA
RGD
PMID:15258583
RGD:1581594
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Nrg1
neuregulin 1
IMP
DNA:transposon insertion
RGD
PMID:23098760
RGD:10449010
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Bscl2m1Kyo
BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo
IMP
RGD
PMID:25934999
RGD:11085488
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Nrg1
neuregulin 1
IMP
DNA:transposon insertion
RGD
PMID:23098760
RGD:10449010
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
RGD
PMID:28894415
RGD:38501107
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Mzhe
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe
IMP
RGD
PMID:28894415
RGD:38501107
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
sexual_dimorphism
IMP
compared to male wild-type
RGD
PMID:29800644
RGD:42724470
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacna1cem1Sage
calcium voltage-gated channel subunit alpha1 C; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
sexual_dimorphism
IMP
compared to male wild-type
RGD
PMID:29800644
RGD:42724470
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Htt
huntingtin
IMP
RGD
PMID:12620967
RGD:13452381
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Rnaset2
ribonuclease T2
IMP
RGD
PMID:29752287
RGD:13781889
NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
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Rnaset2em1Sage
ribonuclease T2; CRISPR/Cas9 induced mutant 1, Sage
IMP
RGD
PMID:29752287
RGD:13781889
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Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
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Oprl1
opioid related nociceptin receptor 1
IMP
RGD
PMID:21095077
RGD:14348962
NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
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Oprl1m1Hubr
opioid related nociceptin receptor 1; ENU induced mutant1, Hubr
IMP
RGD
PMID:21095077
RGD:14348962
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Slc6a4
solute carrier family 6 member 4
IMP
compared to wild type littermate
RGD
PMID:18581099
RGD:4889490
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slc6a4m1Hubr
solute carrier family 6 member 4; ZFN induced mutant1, Hubr
IMP
compared to wild type littermate
RGD
PMID:18581099
RGD:4889490
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Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
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Bdnf
brain-derived neurotrophic factor
IMP
compared to WT
RGD
PMID:23583595
RGD:38501054
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Bdnfem1Sage
brain-derived neurotrophic factor; ZFN induced mutant 1, Sage
IMP
compared to WT
RGD
PMID:23583595
RGD:38501054
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Ahr
aryl hydrocarbon receptor
sexual dimorphism
IMP
RGD
PMID:30769105
RGD:407419883
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
sexual dimorphism
IMP
RGD
PMID:30769105
RGD:407419883
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Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
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Nrg1
neuregulin 1
IMP
RGD
PMID:23022220
RGD:39128254
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrg1Tn(sb-T2/Bart3)2.183Mcwi
neuregulin 1; transposon insertion 2.183, Medical College of Wisconsin
IMP
RGD
PMID:23022220
RGD:39128254
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Nrxn1
neurexin 1
sexual_dimorphism
IMP
compared to wild type male
RGD
PMID:25420124
RGD:12914797
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Nrxn1em1
neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
sexual_dimorphism
IMP
compared to wild type male
RGD
PMID:25420124
RGD:12914797
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Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
G
Ube3a
ubiquitin protein ligase E3A
IMP
RGD
PMID:32066685
RGD:126790466
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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Ube3aem1Jue
ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue
IMP
RGD
PMID:32066685
RGD:126790466
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
compared to wild type controls
RGD
PMID:38378836
RGD:401976422
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em2Mcwi
FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type controls
RGD
PMID:38378836
RGD:401976422
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
sexual_dimorphism
IMP
compared to female wild-type
RGD
PMID:29800644
RGD:42724470
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacna1cem1Sage
calcium voltage-gated channel subunit alpha1 C; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
sexual_dimorphism
IMP
compared to female wild-type
RGD
PMID:29800644
RGD:42724470
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
IMP
RGD
PMID:17055644
RGD:151708697
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
RGD
PMID:28894415 PMID:36536454 PMID:38378836
RGD:38501107 , RGD:401976434 , RGD:401976422
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Mzhe
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe
IMP
RGD
PMID:28894415
RGD:38501107
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:36536454
RGD:401976434
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Fmr1em2Mcwi
FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:38378836
RGD:401976422
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Gad1
glutamate decarboxylase 1
IMP
RGD
PMID:33293518
RGD:158012686
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gad1em15Yyan
glutamate decarboxylase 1; CRISPR/Cas9 induced mutant 15, Yyan
IMP
RGD
PMID:33293518
RGD:158012686
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Kit
KIT proto-oncogene receptor tyrosine kinase
IMP
RGD
PMID:11112797
RGD:2292520
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:11112797
RGD:2292520
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Ngly1
N-glycanase 1
IMP
RGD
PMID:32259258
RGD:39457703
NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
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Ngly1em1Ta
N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta
IMP
RGD
PMID:32259258
RGD:39457703
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,184,677...1,216,392
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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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