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 circulating hormone level
Accession: MP:0005418
browse the term
Definition: any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects
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Esr2
estrogen receptor 2
IMP
RGD
PMID:29580824
RGD:38548925
NCBI chr 6:100,589,553...100,645,240
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 3:46,962,233...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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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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Ahr
aryl hydrocarbon receptor
IMP
RGD
PMID:34256052
RGD:405878088
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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Ahrem1Soar
aryl hydrocarbon receptor; CRISPR/Cas9 induced mutant1, Soar
IMP
RGD
PMID:34256052
RGD:405878088
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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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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 2:104,059,184...104,061,048
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 6:100,589,553...100,645,240
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 6:100,589,553...100,645,240
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 2:112,196,158...112,201,666
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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Gja8
gap junction protein, alpha 8
IAGP
RGD
PMID:27871290
RGD:150429989
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:27871290
RGD:150429989
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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 1:205,731,828...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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Ghsr
growth hormone secretagogue receptor
IMP
RGD
PMID:19931319
RGD:12910109
NCBI chr 2:112,196,158...112,201,666
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 7:24,399,404...24,400,720
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 6:100,589,553...100,645,240
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 chr13:44,775,106...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 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919
G
Esr2
estrogen receptor 2
IMP
RGD
PMID:29580824
RGD:38548925
NCBI chr 6:100,589,553...100,645,240
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 7:122,826,696...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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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
G
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
G
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
G
Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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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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Nr3c1
nuclear receptor subfamily 3, group C, member 1
sexual_dimorphism
IMP
compared to female wild type littermate
RGD
PMID:31329100
RGD:407571699
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Nr3c1em1Kuan
nuclear receptor subfamily 3, group C, member 1; CRISPR/Cas9 induced mutant1, Kuan
sexual_dimorphism
IMP
compared to female wild type littermate
RGD
PMID:31329100
RGD:407571699
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Nrg1
neuregulin 1
IMP
DNA:transposon insertion
RGD
PMID:21092742
RGD:10449008
NCBI chr16:65,954,084...67,007,484
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 4:169,491,273...169,496,500
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 1:43,511,685...43,904,454
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 3:46,962,233...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 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
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 5:116,295,691...116,323,219
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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Gja8
gap junction protein, alpha 8
IAGP
RGD
PMID:27871290
RGD:150429989
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:27871290
RGD:150429989
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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 IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:28746409
RGD:12911217 , RGD:401965413
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 2:93,488,251...93,492,961
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 8:28,546,191...28,569,075
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
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
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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
G
Esr1
estrogen receptor 1
IMP
RGD
PMID:24506075
RGD:8552987
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
Esr1em1Soar
estrogen receptor 1; ZFN induced mutant 1, Soar
IMP
RGD
PMID:24506075
RGD:8552987
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
G
Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:23799078
RGD:13462048
G
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 7:130,864,764...130,916,757
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 4:169,491,273...169,496,500
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 7:122,826,696...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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