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 hormone level
Accession: MP:0003953
browse the term
Definition: aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone
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Esr2
estrogen receptor 2
IMP
RGD
PMID:29580824
RGD:38548925
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
compared to wild type
RGD
PMID:29580824
RGD:38548925
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Dpp4
dipeptidylpeptidase 4
IAGP
compared to DA/Ztm
RGD
PMID:19327106
RGD:41408336
NCBI chr 3:46,962,243...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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Cfb
complement factor B
IMP
compared to wild type SHR
RGD
PMID:28739975
RGD:127285403
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfbem1Tja
complement factor B, ZFN induced mutant 1, Tja
IMP
compared to wild type SHR
RGD
PMID:28739975
RGD:127285403
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
compared to SS/JrHsdMcwi
RGD
PMID:28931751
RGD:38500204
NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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Kcnj16em1Mcwi
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:28931751
RGD:38500204
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Dpp4
dipeptidylpeptidase 4
IAGP
compared to DA/Ztm
RGD
PMID:19327106
RGD:41408336
NCBI chr 3:46,962,243...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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Tspo
translocator protein
induces
IMP
RGD
PMID:29074640
RGD:150429771
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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Tspoem1Vpl
translocator protein; ZFN induced mutant1, Vpl
induces
IMP
RGD
PMID:29074640
RGD:150429771
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Tspoem2Vpl
translocator protein; ZFN induced mutant2, Vpl
induces
IMP
RGD
PMID:29074640
RGD:150429771
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Crh
corticotropin releasing hormone
IDA
RGD
PMID:12450317
RGD:704424
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Esr2
estrogen receptor 2
IMP
RGD
PMID:28520870
RGD:38548924
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
RGD
PMID:28520870
RGD:38548924
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Esr2
estrogen receptor 2
IMP
RGD
PMID:28520870
RGD:38548924
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
RGD
PMID:28520870
RGD:38548924
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Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
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Ghsr
growth hormone secretagogue receptor
IMP
DNA:missense mutation:cds:nucleotide 1027
RGD
PMID:27129673
RGD:150520013
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Ghsrm1Mcwi
growth hormone secretagogue receptor; mutation 1, Medical College of Wisconsin
IMP
compared to wild type rats in response to ghrelin (CHEBI:75431)
RGD
PMID:27129673
RGD:150520013
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Tbc1d1
TBC1 domain family member 1
induces
IMP
compared to Wild type
RGD
PMID:28177704
RGD:150521607
NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499
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Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
induces
IMP
compared to Wild type
RGD
PMID:28177704
RGD:150521607
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:29190650
RGD:151347176
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:29190650
RGD:151347176
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,814...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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Ghsr
growth hormone secretagogue receptor
IMP
RGD
PMID:19931319
RGD:12910109
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Pmch
pro-melanin-concentrating hormone
IMP
compared to wild-type
RGD
PMID:23555928 PMID:19934402
RGD:150429944 , RGD:150429945
NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250
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Pmchm1Hubr
pro-melanin-concentrating hormone; ENU induced mutant1, Hubr
IMP
compared to wild-type
RGD
PMID:23555928 PMID:19934402
RGD:150429944 , RGD:150429945
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Tg
thyroglobulin
IAGP
RGD
PMID:10760744
RGD:13605608
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgrdw
thyroglobulin; rdw mutant
IAGP
RGD
PMID:10760744
RGD:13605608
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Esr2
estrogen receptor 2
IMP
RGD
PMID:28520870
RGD:38548924
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
RGD
PMID:28520870
RGD:38548924
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Kiss1
KiSS-1 metastasis-suppressor
IMP
RGD
PMID:25582792
RGD:10059342
NCBI chr13:44,774,823...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Kiss1tm1Nips
KiSS-1 metastasis-suppressor; targeted mutant 1, Nips
IMP
RGD
PMID:25582792
RGD:10059342
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Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
G
Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
G
Crh
corticotropin releasing hormone
IDA
RGD
PMID:12450317
RGD:704424
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Esr2
estrogen receptor 2
IMP
RGD
PMID:29580824
RGD:38548925
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Esr2em1Soar
estrogen receptor 2; ZFN induced mutant 1, Soar
IMP
compared to wild type
RGD
PMID:29580824
RGD:38548925
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
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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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Dhh
desert hedgehog signaling molecule
IMP
RGD
PMID:21062903
RGD:38548923
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Tspo
translocator protein
IMP
RGD
PMID:29074640
RGD:150429771
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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Tspoem1Vpl
translocator protein; ZFN induced mutant1, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
G
Tspoem2Vpl
translocator protein; ZFN induced mutant2, Vpl
IMP
RGD
PMID:29074640
RGD:150429771
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Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
G
Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:18676360
RGD:150429974
G
Tshr
thyroid stimulating hormone receptor
IMP
RGD
PMID:29507327
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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Tshr
thyroid stimulating hormone receptor
IMP
RGD
PMID:29507327
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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Gh1
growth hormone 1
IAGP
RGD
PMID:2752987 PMID:2152867
RGD:1578505 , RGD:1578506
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gh1sdr
IAGP
RGD
PMID:2152867 PMID:2752987
RGD:1578506 , RGD:1578505
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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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Gh1
growth hormone 1
IAGP
RGD
PMID:2752987 PMID:2152867
RGD:1578505 , RGD:1578506
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gh1sdr
IAGP
RGD
PMID:2152867 PMID:2752987
RGD:1578506 , RGD:1578505
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Pax6
paired box 6
IAGP
DNA:frameshift mutation:cds:
RGD
PMID:21203536
RGD:8552339
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pax6Sey2
paired box gene 6, small eye mutation 2
IAGP
RGD
PMID:21203536
RGD:8552339
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Slc6a4
solute carrier family 6 member 4
IMP
RGD
PMID:19246633
RGD:4889487
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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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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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IAGP
RGD
PMID:11832364
RGD:727991
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IAGP
RGD
PMID:11832364
RGD:727991
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Nrg1
neuregulin 1
IMP
DNA:transposon insertion
RGD
PMID:21092742
RGD:10449008
NCBI chr16:59,250,658...60,303,024
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
compared to wild-type
RGD
PMID:21092742
RGD:10449008
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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
at 9 weeks
RGD
PMID:30893315
RGD:126908018
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Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
at 9 weeks
RGD
PMID:30893315
RGD:126908018
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Esr1
estrogen receptor 1
IMP
RGD
PMID:24506075
RGD:8552987
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr1em1Soar
estrogen receptor 1; ZFN induced mutant 1, Soar
IMP
RGD
PMID:24506075
RGD:8552987
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Dpp4
dipeptidylpeptidase 4
IAGP
compared to DA/Ztm
RGD
PMID:19327106
RGD:41408336
NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901
G
Dpp4DPPIV
dipeptidylpeptidase 4; DPPIV mutant
IAGP
compared to DA/Ztm
RGD
PMID:19327106
RGD:41408336
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,814...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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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IMP
compared to wild type
RGD
PMID:29656108
RGD:150520032
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cyp2j4em1Sage
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage
IMP
compared to wild type
RGD
PMID:29656108
RGD:150520032
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Insr
insulin receptor
induced
IMP
RGD
PMID:19017805
RGD:2314405
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lepr
leptin receptor
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
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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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Fabp4
fatty acid binding protein 4
IAGP
RGD
PMID:14724732
RGD:737686
NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578
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Ldlr
low density lipoprotein receptor
IMP
RGD
PMID:28469073
RGD:12910100
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Ldlrem1Sage
low density lipoprotein receptor; ZFN induced mutant 1, Sage
IMP
RGD
PMID:28469073
RGD:12910100
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Lepr
leptin receptor
IMP IAGP
compared to lean littermates
RGD
PMID:27465994 PMID:9032111
RGD:12911217 , RGD:11570540
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprcp
leptin receptor;corpulent
IAGP
compared to lean littermates
RGD
PMID:9032111
RGD:11570540
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
G
Leprfa
leptin receptor; fa mutant
IAGP
compared to lean littermates
RGD
PMID:9032111
RGD:11570540
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Mc4r
melanocortin 4 receptor
IMP
RGD
PMID:21527895 PMID:24400148
RGD:6478803 , 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:21527895 PMID:24400148
RGD:6478803 , RGD:13825242
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Esr1
estrogen receptor 1
IMP
RGD
PMID:24506075
RGD:8552987
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr1em1Soar
estrogen receptor 1; ZFN induced mutant 1, Soar
IMP
RGD
PMID:24506075
RGD:8552987
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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
G
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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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
treatment
IMP
compared to Jcl:Wi and treated
RGD
PMID:32231239
RGD:32716373
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp27b1em1Thka
cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
compared to Jcl:Wi and treated
RGD
PMID:32231239
RGD:32716373
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Vdr
vitamin D receptor
treatment
IMP
compared to Jcl:Wi and treated
RGD
PMID:32231239 PMID:32231239
RGD:32716373 , RGD:32716373
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vdrem1Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
compared to Jcl:Wi and treated
RGD
PMID:32231239
RGD:32716373
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Vdrem2Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
IMP
RGD
PMID:32231239
RGD:32716373
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IMP
at 4-6 weeks
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
at 4-6 weeks
RGD
PMID:30893315
RGD:126908018
G
Cdkn1bem4Musc
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc
IMP
at 4-6 weeks
RGD
PMID:30893315
RGD:126908018
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
G
Tshr
thyroid stimulating hormone receptor
IMP
RGD
PMID:29507327
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
G
Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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Park7
Parkinsonism associated deglycase
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Pink1
PTEN induced kinase 1
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Tg
thyroglobulin
IAGP
RGD
PMID:10760744
RGD:13605608
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
G
Tgrdw
thyroglobulin; rdw mutant
IAGP
RGD
PMID:10760744
RGD:13605608
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all