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 urine homeostasis
Accession: MP:0009643
browse the term
Definition: anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine
Synonyms: exact_synonym: abnormal urinalysis; abnormal urine chemistry
broad_synonym: abnormal kidney excretion; abnormal renal excretion
alt_id: MP:0001757; MP:0005427; MP:0005555
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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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Bmal1
basic helix-loop-helix ARNT like 1
sex_dimorphism
IMP
in male
RGD
PMID:32306766
RGD:155598602
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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Bmal1em1Mcwi
basic helix-loop-helix ARNT like 1;CRISPR/Cas9 induced mutant 1,Mcwi
sex_dimorphism
IMP
in male
RGD
PMID:32306766
RGD:155598602
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Btg2
BTG anti-proliferation factor 2
IAGP
RGD
PMID:23817491
RGD:12802368
NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
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Chi3l1
chitinase 3 like 1
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chit1
chitinase 1
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592
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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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Etnk2
ethanolamine kinase 2
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:44,811,012...44,829,052
Ensembl chr13:44,811,015...44,829,037
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Fmod
fibromodulin
IAGP
RGD
PMID:23817491
RGD:12802368
NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133
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Gpr37l1
G protein-coupled receptor 37-like 1
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,598,574...46,605,421
Ensembl chr13:46,598,578...46,605,421
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Ipo9
importin 9
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,810,460...46,862,694
Ensembl chr13:46,813,171...46,862,673
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Lepr
leptin receptor
sexual_dimorphism treatment
IAGP
compared to BN compared to ad lib fed rats
RGD
PMID:20159938 PMID:11500530
RGD:7365117 , RGD:628581
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprfa
leptin receptor; fa mutant
sexual_dimorphism treatment
IAGP
compared to BN compared to ad lib fed rats
RGD
PMID:20159938 PMID:11500530
RGD:7365117 , RGD:628581
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Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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Mybph
myosin binding protein H
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
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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Optc
opticin
IAGP
RGD
PMID:23817491
RGD:12802368
NCBI chr13:45,353,954...45,368,254
Ensembl chr13:45,355,148...45,365,237
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Plekha6
pleckstrin homology domain containing A6
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:44,614,740...44,754,951
Ensembl chr13:44,615,011...44,754,673
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Prelp
proline and arginine rich end leucine rich repeat protein
IAGP
RGD
PMID:23817491
RGD:12802368
NCBI chr13:45,368,407...45,391,480
Ensembl chr13:45,370,533...45,380,270
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Ptprv
protein tyrosine phosphatase, receptor type, V
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,548,125...46,569,148
Ensembl chr13:46,548,128...46,568,329
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Ren
renin
IAGP
RGD
PMID:23817491
RGD:12802368
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rnpep
arginyl aminopeptidase
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998
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Sox13
SRY-box transcription factor 13
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:44,831,097...44,875,522
Ensembl chr13:44,831,085...44,875,762
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Syt2
synaptotagmin 2
IAGP
RGD
PMID:23460292
RGD:12802369
NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
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Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Cd247
Cd247 molecule
induced
IMP
RGD
PMID:24343121 PMID:24343121
RGD:13442481 , RGD:13442481
NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
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Cd247em1Mcwi
Cd247 molecule; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
induced
IMP
RGD
PMID:24343121 PMID:24343121
RGD:13442481 , RGD:13442481
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Nox4
NADPH oxidase 4
induced
IMP
compared to SS/JrHsdMcwi
RGD
PMID:26644237 PMID:26644237
RGD:11085830 , RGD:11085830
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nox4em2Mcwi
NADPH oxidase 4; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
induced
IMP
compared to SS/JrHsdMcwi
RGD
PMID:26644237 PMID:26644237
RGD:11085830 , RGD:11085830
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Plekha7
pleckstrin homology domain containing A7
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Plekha7em4Mcwi
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
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Rag1
recombination activating 1
IMP
RGD
PMID:23364523
RGD:7207429
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:23364523
RGD:7207429
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Rag1em2Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
as compared to SS-Rag1em1Mcwi on 4% NaCl diet
RGD
PMID:23364523
RGD:7207429
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Sh2b3
SH2B adaptor protein 3
IMP
RGD
PMID:25776069
RGD:13442483
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sh2b3em1Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:25776069
RGD:13442483
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Shc1
SHC adaptor protein 1
IMP
RGD
PMID:27270176
RGD:12792230
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Shc1em4Mcwi
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin
IMP
RGD
PMID:27270176
RGD:12792230
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Clcn6
chloride voltage-gated channel 6
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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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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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
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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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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:11095650
RGD:1300514
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
IAGP
RGD
PMID:1127102
RGD:1354700
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a1j
UDP glucuronosyltransferase family 1 member A1, jaundice mutant
treatment
IAGP
RGD
PMID:1127102
RGD:1354700
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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
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Cd40em1Uthal
CD40 molecule; ZFN induced mutant 1, Uthal
IMP
RGD
PMID:27692815
RGD:14398462
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Clcn6
chloride voltage-gated channel 6
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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Mmp2
matrix metallopeptidase 2
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
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Nr2f2
nuclear receptor subfamily 2, group F, member 2
IMP
compared to SS/JrHsdMcw
RGD
PMID:25687237
RGD:10401852
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Nr2f2em1Mcwi
nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcw
RGD
PMID:25687237
RGD:10401852
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Plekha7
pleckstrin homology domain containing A7
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Plekha7em4Mcwi
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
compared to wild type
RGD
PMID:25136115 PMID:25136115
RGD:11079199 , RGD:11079199
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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
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Clcn6
chloride voltage-gated channel 6
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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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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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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Gla
galactosidase, alpha
onset
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
onset
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
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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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Gla
galactosidase, alpha
onset
IMP
compared to Wild type males
RGD
PMID:29979634
RGD:401976416
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
onset
IMP
compared to Wild type males
RGD
PMID:29979634
RGD:401976416
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
IAGP
RGD
PMID:25505293
RGD:9835029
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Wfs1
wolframin ER transmembrane glycoprotein
onset
IMP
RGD
PMID:28860598
RGD:149735331
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wfs1em1Ptsn
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
onset
IMP
RGD
PMID:28860598
RGD:149735331
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Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832
RGD:401960095
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832 PMID:28746409
RGD:401960095 , RGD:401965413
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
induces
IMP
compared to vehicle-treated control
RGD
PMID:29923767
RGD:149735534
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Trpc6em1Mcwi
transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin
induces
IMP
compared to vehicle-treated control
RGD
PMID:29923767
RGD:149735534
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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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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:15052665 PMID:11095650
RGD:15014788 , RGD:1300514
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 PMID:11095650
RGD:15014788 , RGD:1300514
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Actr3
actin related protein 3
IAGP
DNA:missense mutation:cds:p.L111F
RGD
PMID:18064521
RGD:2292230
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
IMP
As compared to SS parents
RGD
PMID:23185005
RGD:9685162
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
As compared to SS parents
RGD
PMID:23185005
RGD:9685162
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Agtrap
angiotensin II receptor-associated protein
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
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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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Lepr
leptin receptor
IMP IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:10901178
RGD:12911217 , RGD:401965414
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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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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Ndufc2
NADH:ubiquinone oxidoreductase subunit C2
IMP
DNA:deletion:exon1:heterozygous 107 bp deletion
RGD
PMID:26888427
RGD:11040458
NCBI chr 1:151,711,965...151,718,188
Ensembl chr 1:151,711,901...151,718,189
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Ndufc2em2Mcwi
NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:26888427
RGD:11040458
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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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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
IMP
as compared to the wild-type
RGD
PMID:24006081
RGD:8662415
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Rab38
RAB38, member RAS oncogene family
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:23291471
RGD:13782139
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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Rab38em1Mcwi
RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:23291471
RGD:13782139
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Resp18
regulated endocrine-specific protein 18
IMP
RGD
PMID:29570433
RGD:14348960
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Resp18em2Mcwi
regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:29570433
RGD:14348960
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:11095650
RGD:1300514
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Alms1
ALMS1, centrosome and basal body associated protein
induces
IMP
RGD
PMID:30385718
RGD:151361229
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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Alms1em1Mcwi
Alstrom syndrome 1 homolog (human); zinc finger nuclease induced mutant 1, Medical College of Wisconsin
induces
IMP
RGD
PMID:30385718
RGD:151361229
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