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: organomegaly
Accession: MP:0031094
browse the term
Definition: abnormal enlargement of one or more visceral organs (internal organs enclosed in a cavity) of the body
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Agtr1b
angiotensin II receptor, type 1b
TAS
RGD
PMID:12446719
RGD:629553
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Crebbp
CREB binding protein
IDA
RGD
PMID:12477714
RGD:1298794
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Ep300
E1A binding protein p300
IDA
RGD
PMID:12477714
RGD:1298794
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Igf1
insulin-like growth factor 1
IDA
RGD
PMID:15996002
RGD:1580474
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Nppb
natriuretic peptide B
IMP
RGD
PMID:26063669
RGD:12910116
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nppbem2Mcwi
natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:26063669
RGD:12910116
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Npr2
natriuretic peptide receptor 2
IAGP
RGD
PMID:16537417
RGD:1601488
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
IDA
RGD
PMID:16799071
RGD:1580700
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Ppp3cb
protein phosphatase 3 catalytic subunit beta
IDA
RGD
PMID:16496058
RGD:1580703
NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
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Rcan1
regulator of calcineurin 1
IDA
RGD
PMID:15899894
RGD:1581475
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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S1pr1
sphingosine-1-phosphate receptor 1
IMP
RGD
PMID:11549339
RGD:1357201
NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
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Abcb1a
ATP binding cassette subfamily B member 1A
IAGP
RGD
PMID:23569176
RGD:8657335
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
IAGP
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
RGD
PMID:7933831
RGD:1300446
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Odc1
ornithine decarboxylase 1
TAS
RGD
PMID:12716758
RGD:1578327
NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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Abcb1a
ATP binding cassette subfamily B member 1A
IAGP
RGD
PMID:23569176
RGD:8657335
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ednra
endothelin receptor type A
IDA
RGD
PMID:16157796
RGD:1581830
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Egfr
epidermal growth factor receptor
IDA
RGD
PMID:12624003
RGD:1580955
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Lepr
leptin receptor
treatment
IAGP
RGD
PMID:33568522
RGD:401965412
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Myh7b
myosin heavy chain 7B
IMP
RGD
PMID:32207065
RGD:126925946
NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
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Myh7bem1Blar
myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar
IMP
RGD
PMID:32207065
RGD:126925946
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Sod3
superoxide dismutase 3
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
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Dmd
dystrophin
IMP
RGD
PMID:25005781
RGD:11040981
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dmdem1Kykn
dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi
IMP
RGD
PMID:25005781
RGD:11040981
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
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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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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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Mthfr
methylenetetrahydrofolate reductase
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nppa
natriuretic peptide A
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Ahr
aryl hydrocarbon receptor
sexual_dimorphism
IMP
females compared to Hsd:SD females
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
sexual_dimorphism
IMP
females compared to Hsd:SD females
RGD
PMID:23859880
RGD:13204753
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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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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
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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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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305 PMID:11095650 PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305 PMID:15052665
RGD:14995942 , RGD:15014788
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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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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
in KO rat
RGD
PMID:30893315
RGD:126908018
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Pparg
peroxisome proliferator-activated receptor gamma
induces
IAGP
RGD
PMID:27381370
RGD:127285618
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargm1Kyo
peroxisome proliferator-activated receptor gamma; ENU induced mutant 1, Kyo
induces
IAGP
RGD
PMID:27381370
RGD:127285618
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
in KO rat
RGD
PMID:30893315
RGD:126908018
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
in KO rat
RGD
PMID:30893315
RGD:126908018
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bem1Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
RGD
PMID:30893315
RGD:126908018
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:15052665
RGD:15014788
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:15052665
RGD:15014788
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Lepr
leptin receptor
IMP
RGD
PMID:26537785
RGD:12911216
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
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