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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 ion homeostasis
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Accession:MP:0001765 term browser browse the term
Definition:anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues


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abnormal chloride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Cftrem1Sage cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage IMP RGD PMID:24608905 RGD:11566051
abnormal iron homeostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 IAGP RGD PMID:9448300 PMID:14675167 RGD:729808, RGD:1580428 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
abnormal renal phosphate reabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
abnormal urine sodium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Bmal1em1Mcwi basic helix-loop-helix ARNT like 1;CRISPR/Cas9 induced mutant 1,Mcwi sex_dimorphism IMP in male RGD PMID:32306766 RGD:155598602
decreased circulating bicarbonate level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IMP RGD PMID:23753405 RGD:13782272 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702 		JBrowse link
G 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:30605394 RGD:38500203
G Kcnj1em1Kasu potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu IMP RGD PMID:23753405 RGD:13782272
G 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 		JBrowse link
G Renem1Mcwi renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:21242461 RGD:7771614
decreased circulating calcium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp27b1em1Thka cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373
G Vdr vitamin D receptor treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vdrem1Thka vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka treatment IMP compared to Jcl:Wi and untreated RGD PMID:32231239 RGD:32716373
decreased circulating chloride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:23799078 RGD:13462048
decreased circulating copper level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP compared to LEA/Hok RGD PMID:2022751 PMID:17303181 RGD:25823147, RGD:2292672 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:17303181 PMID:2022751 RGD:2292672, RGD:25823147
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 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
decreased circulating iron level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
decreased circulating phosphate level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
decreased circulating potassium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702 		JBrowse link
G 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:30605394 RGD:38500203
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 		JBrowse link
G Lrrk2em1Sage leucine-rich repeat kinase 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:23799078 RGD:13462048
decreased liver iron level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP compared to LEC/Tj; RGD PMID:11509115 RGD:1302456 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEC/Tj; RGD PMID:11509115 RGD:1302456
decreased spleen iron level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
decreased urine sodium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hypokalemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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
increased cardiac muscle calcium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
increased circulating chloride level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IMP RGD PMID:23753405 RGD:13782272 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702 		JBrowse link
G 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:30605394 RGD:38500203
G Kcnj1em1Kasu potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu IMP RGD PMID:23753405 RGD:13782272
increased circulating magnesium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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
increased circulating manganese level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
increased circulating phosphate level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 IAGP RGD PMID:28111129 RGD:13792593 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li IAGP RGD PMID:28111129 RGD:13792593
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 		JBrowse link
G Dpp4DPPIV dipeptidylpeptidase 4; DPPIV mutant IAGP compared to DA/Ztm RGD PMID:19327106 RGD:41408336
increased circulating potassium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IMP RGD PMID:23753405 RGD:13782272 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj1em1Kasu potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu IMP RGD PMID:23753405 RGD:13782272
increased circulating sodium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IMP RGD PMID:23753405 RGD:13782272 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kcnj1em1Kasu potassium voltage-gated channel subfamily J member 1; ZFN induced mutant 1,Kasu IMP RGD PMID:23753405 RGD:13782272
increased liver copper level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP compared to LEA/Hok RGD PMID:8291609 PMID:17303181 PMID:30733544 PMID:1561010 RGD:15036817, RGD:2292672, RGD:25823141, RGD:25823154 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:17303181 PMID:30733544 PMID:8291609 PMID:1561010 RGD:2292672, RGD:25823141, RGD:15036817, RGD:25823154
increased liver iron level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G Cpem1Ang ceruloplasmin; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31560858 RGD:38549582
increased urine sodium level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Alms1em1Mcwi Alstrom syndrome 1 homolog (human); zinc finger nuclease induced mutant 1, Medical College of Wisconsin induces IMP RGD PMID:30385718 RGD:151361229
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5373
    homeostasis/metabolism phenotype 1396
      abnormal homeostasis 1299
        abnormal ion homeostasis 85
          abnormal bicarbonate homeostasis + 10
          abnormal calcium ion homeostasis + 21
          abnormal chloride level + 12
          abnormal choline level + 1
          abnormal copper homeostasis + 12
          abnormal erythrocyte ion transport + 0
          abnormal iron homeostasis + 8
          abnormal magnesium ion homeostasis + 3
          abnormal manganese homeostasis + 3
          abnormal nitrate level + 0
          abnormal nitrite level + 0
          abnormal phosphate level + 10
          abnormal plasma anion gap + 0
          abnormal potassium ion homeostasis + 15
          abnormal renal phosphate reabsorption 1
          abnormal sodium ion homeostasis + 22
          abnormal urine organic anion level + 3
          abnormal urine organic cation level 0
paths to the root