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 protein level
Accession: MP:0008469
browse the term
Definition: anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage
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Klf5
KLF transcription factor 5
IMP
Syp, Gap43
RGD
PMID:32272873
RGD:45073134
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Mir195
microRNA 195
IMP
Syp, Gap43
RGD
PMID:32272873
RGD:45073134
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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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
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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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Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
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Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
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Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
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Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
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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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Lep
leptin
IMP
RGD
PMID:22948215
RGD:12904911
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
induces
IMP
compared to standard diet
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
induces
IMP
compared to standard diet
RGD
PMID:29656108
RGD:150520032
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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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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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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
G
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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Htr7
5-hydroxytryptamine receptor 7
IMP
in male
RGD
PMID:31125290
RGD:14696717
NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
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Htr7em1Msu
5-hydroxytryptamine receptor 7; CRISPR/Cas9 induced mutant 1, Msu
IMP
in male
RGD
PMID:31125290
RGD:14696717
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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
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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Rarres2
retinoic acid receptor responder 2
sexual_dimorphism
IMP
compared to male wild-type
RGD
PMID:29906243 PMID:29906243
RGD:38596340 , RGD:38596340
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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Rarres2em1Msu
retinoic acid receptor responder 2; CRISPR/Cas9 induced mutant 1, Msu
sexual_dimorphism
IMP
compared to male wild-type
RGD
PMID:29906243 PMID:29906243
RGD:38596340 , RGD:38596340
G
Atp7b
ATPase copper transporting beta
IAGP
compared to LEA/Hok
RGD
PMID:1561010
RGD:25823154
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
compared to LEA/Hok
RGD
PMID:1561010
RGD:25823154
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Cp
ceruloplasmin
IMP
RGD
PMID:31560858
RGD:38549582
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cpem1Ang
ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang
IMP
RGD
PMID:31560858
RGD:38549582
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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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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
G
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
Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
G
Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
G
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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Alb
albumin
IAGP
RGD
PMID:1690892
RGD:734959
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
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
G
Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
G
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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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
G
Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
G
Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
G
Il1rl2
interleukin 1 receptor-like 2
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667
G
Il1rl2tm1(Myh6-cre)Mhzh
interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh
IMP
compared to Wild Type in cardiopulmonary bypass model
RGD
PMID:32048631
RGD:126925167
G
Cd40
CD40 molecule
IMP
RGD
PMID:27692815
RGD:14398462
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40em1Uthal
CD40 molecule; ZFN induced mutant 1, Uthal
IMP
RGD
PMID:27692815
RGD:14398462
G
Atp7b
ATPase copper transporting beta
IAGP
compared to LEA/Hok
RGD
PMID:30733544 PMID:17303181
RGD:25823141 , RGD:2292672
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
G
Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
compared to LEA/Hok
RGD
PMID:17303181 PMID:30733544
RGD:2292672 , RGD:25823141
G
Lepr
leptin receptor
IMP IAGP
RGD
PMID:27225180 PMID:23154293
RGD:12910507 , RGD:13432147
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem3
leptin receptor; TALEN induced mutant 3
IMP
RGD
PMID:27225180
RGD:12910507
G
Leprfa
leptin receptor; fa mutant
IAGP
RGD
PMID:23154293
RGD:13432147
G
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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Ren
renin
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Renem1Mcwi
renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
G
Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
G
Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
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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
G
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
G
Atp7b
ATPase copper transporting beta
IAGP
compared to LEA/Hok
RGD
PMID:30733544
RGD:25823141
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
G
Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
compared to LEA/Hok
RGD
PMID:30733544
RGD:25823141
G
Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
G
Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
RGD
PMID:28124283
RGD:13703118
G
Lepr
leptin receptor
IMP
RGD
PMID:27225180
RGD:12910507
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem3
leptin receptor; TALEN induced mutant 3
IMP
RGD
PMID:27225180
RGD:12910507
G
Dmd
dystrophin
IMP
RGD
PMID:25310701
RGD:12880034
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
G
Dmdem1Ang
dystrophin; TALEN-induced mutant1, Ang
IMP
RGD
PMID:25310701
RGD:12880034
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Adora2b
adenosine A2B receptor
IMP
RGD
PMID:26385692
RGD:11533328
NCBI chr10:46,940,394...46,956,772
Ensembl chr10:46,940,384...46,956,772
G
Adora2bem2Mcwi
adenosine A2B receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:26385692
RGD:11533328
G
Il36rn
interleukin 36 receptor antagonist
IMP
RGD
PMID:32048631
RGD:126925167
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
G
Il36rntm1(Myh6-cre)Mhzh
interleukin 36 receptor antagonist; tm1, Mhzh
IMP
RGD
PMID:32048631
RGD:126925167
G
Il36rn
interleukin 36 receptor antagonist
IMP
RGD
PMID:32048631
RGD:126925167
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
G
Il36rntm1(Myh6-cre)Mhzh
interleukin 36 receptor antagonist; tm1, Mhzh
IMP
RGD
PMID:32048631
RGD:126925167
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
Lrrk2em1Sage
leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:23799078
RGD:13462048
G
Rarres2
retinoic acid receptor responder 2
sexual_dimorphism
IMP IAGP
compared to male knockout
RGD
PMID:29906243 PMID:29906243
RGD:38596340 , RGD:38596340
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
G
Rarres2em1Msu
retinoic acid receptor responder 2; CRISPR/Cas9 induced mutant 1, Msu
sexual_dimorphism
IMP IAGP
compared to male knockout
RGD
PMID:29906243 PMID:29906243
RGD:38596340 , RGD:38596340
G
Il36rn
interleukin 36 receptor antagonist
IMP
RGD
PMID:32048631
RGD:126925167
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
G
Il36rntm1(Myh6-cre)Mhzh
interleukin 36 receptor antagonist; tm1, Mhzh
IMP
RGD
PMID:32048631
RGD:126925167
G
Arsb
arylsulfatase B
IAGP
RGD
PMID:21887218
RGD:39131283
NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671
G
Cp
ceruloplasmin
IMP
RGD
PMID:31560858
RGD:38549582
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
G
Cpem1Ang
ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang
IMP
RGD
PMID:31560858
RGD:38549582
G
Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
IMP
RGD
PMID:32037220
RGD:38548917
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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Adamts16em1Bj
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj
IMP
RGD
PMID:32037220
RGD:38548917
G
Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
induces
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
G
Cyp2j4em1Sage
cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage
induces
IMP
compared to wild type
RGD
PMID:29656108
RGD:150520032
G
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
G
Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
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