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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 mitochondrial chromosome morphology
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Accession:MP:0011638 term browser browse the term
Definition:any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell
Synonyms:exact_synonym: abnormal mitochondria chromosome morphology;   abnormal mitochondrial DNA morphology;   abnormal mitochondrial genome morphology;   abnormal mitochondrion chromosome morphology;   abnormal mtDNA morphology



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abnormal mitochondrial chromosome morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdkrb2 bradykinin receptor, beta 2 IAGP MGI PMID:16604193 NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
JBrowse link
G Fxn frataxin IAGP MGI PMID:32586831 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IAGP MGI PMID:25448926 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503
JBrowse link
G Ins2 insulin II IAGP MGI PMID:16604193 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
JBrowse link
G Tigar Trp53 induced glycolysis regulatory phosphatase IAGP MGI PMID:22044588 NCBI chr 6:127,062,079...127,086,564
Ensembl chr 6:127,062,079...127,086,520
JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:22044588 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
decreased fat cell mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crls1 cardiolipin synthase 1 IAGP MGI PMID:29861389 NCBI chr 2:132,688,557...132,708,706
Ensembl chr 2:132,688,586...132,708,705
JBrowse link
G Ctf1 cardiotrophin 1 IAGP MGI PMID:21803294 NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
JBrowse link
G Esrra estrogen related receptor, alpha IAGP MGI PMID:17229846 NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
JBrowse link
G Myf5 myogenic factor 5 IAGP MGI PMID:24703692 NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 IAGP MGI PMID:30511960 NCBI chr 2:92,205,043...92,211,563
Ensembl chr 2:92,205,021...92,211,562
JBrowse link
G Prdm16 PR domain containing 16 IAGP MGI PMID:24703692 NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330
JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I IAGP MGI PMID:19952371 NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433
JBrowse link
decreased hepatocyte mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase IAGP MGI PMID:31127938 NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IAGP MGI PMID:25977511 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein IAGP MGI PMID:18818194 NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 IAGP MGI PMID:23150520 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
JBrowse link
G Serac1 serine active site containing 1 IAGP MGI PMID:35235340 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
JBrowse link
G Sesn2 sestrin 2 IAGP MGI PMID:22958918 NCBI chr 4:132,220,115...132,237,767
Ensembl chr 4:132,219,343...132,237,812
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit IAGP MGI PMID:27496549 NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Suclg2 succinate-Coenzyme A ligase, GDP-forming, beta subunit IAGP MGI PMID:27496549 NCBI chr 6:95,449,992...95,695,799
Ensembl chr 6:95,449,990...95,695,781
JBrowse link
decreased mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP MGI PMID:22110743 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Dguok deoxyguanosine kinase IAGP MGI PMID:31127938 NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951
JBrowse link
G Fbxl4 F-box and leucine-rich repeat protein 4 IAGP MGI PMID:32525278 NCBI chr 4:22,357,526...22,434,091
Ensembl chr 4:22,357,543...22,434,091
JBrowse link
G Gpx4 glutathione peroxidase 4 IAGP MGI PMID:22207760 NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273
JBrowse link
G Hoxa11os homeobox A11, opposite strand IAGP MGI PMID:37494932 NCBI chr 6:52,222,013...52,226,770
Ensembl chr 6:52,220,356...52,226,784
JBrowse link
G Lonp1 lon peptidase 1, mitochondrial IAGP MGI PMID:25017063 NCBI chr17:56,921,297...56,933,903
Ensembl chr17:56,921,297...56,933,887
JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 IAGP MGI PMID:29572490 NCBI chr 2:144,112,824...144,123,147
Ensembl chr 2:144,112,583...144,123,147
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein IAGP MGI PMID:18818194 NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
JBrowse link
G Oma1 OMA1 zinc metallopeptidase IAGP MGI PMID:22433842 NCBI chr 4:103,170,991...103,229,066
Ensembl chr 4:103,171,009...103,229,065
JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 IAGP MGI PMID:23150520 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit IAGP MGI PMID:23197651 NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IAGP MGI PMID:29925537 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
JBrowse link
G Rnaseh1 ribonuclease H1 IAGP MGI PMID:12667461 NCBI chr12:28,699,600...28,709,591
Ensembl chr12:28,699,601...28,709,588
JBrowse link
G Serac1 serine active site containing 1 IAGP MGI PMID:35235340 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit IAGP MGI PMID:24271779 PMID:27496549 NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Suclg2 succinate-Coenzyme A ligase, GDP-forming, beta subunit IAGP MGI PMID:27496549 NCBI chr 6:95,449,992...95,695,799
Ensembl chr 6:95,449,990...95,695,781
JBrowse link
G Tfam transcription factor A, mitochondrial IAGP MGI PMID:9500544 PMID:11062475 PMID:22110743 NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110
JBrowse link
G Tfb2m transcription factor B2, mitochondrial IAGP MGI PMID:28702322 NCBI chr 1:179,355,617...179,373,870
Ensembl chr 1:179,355,620...179,373,832
JBrowse link
G Tk2 thymidine kinase 2, mitochondrial IAGP MGI PMID:18434326 PMID:18467430 PMID:20940150 NCBI chr 8:104,953,323...104,975,224
Ensembl chr 8:104,953,317...104,975,190
JBrowse link
decreased muscle fiber mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 MpV17 mitochondrial inner membrane protein IAGP MGI PMID:18818194 NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IAGP MGI PMID:23250881 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
JBrowse link
G Tk2 thymidine kinase 2, mitochondrial IAGP MGI PMID:20940150 NCBI chr 8:104,953,323...104,975,224
Ensembl chr 8:104,953,317...104,975,190
JBrowse link
decreased myocardial fiber mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor IAGP MGI PMID:31939735 NCBI chr 5:135,081,811...135,093,813
Ensembl chr 5:135,081,811...135,093,813
JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP MGI PMID:35700042 NCBI chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581
JBrowse link
G Dguok deoxyguanosine kinase IAGP MGI PMID:31127938 NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 IAGP MGI PMID:16327803 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559
JBrowse link
G Med1 mediator complex subunit 1 IAGP MGI PMID:27548259 NCBI chr11:98,042,980...98,084,121
Ensembl chr11:98,042,980...98,084,119
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 IAGP MGI PMID:25506927 NCBI chr 9:78,355,372...78,381,447
Ensembl chr 9:78,355,490...78,382,630
JBrowse link
G Sdhaf4 succinate dehydrogenase complex assembly factor 4 IAGP MGI PMID:35803927 NCBI chr 1:24,035,020...24,044,721
Ensembl chr 1:24,035,020...24,044,737
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit IAGP MGI PMID:27496549 NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Tk2 thymidine kinase 2, mitochondrial IAGP MGI PMID:20940150 NCBI chr 8:104,953,323...104,975,224
Ensembl chr 8:104,953,317...104,975,190
JBrowse link
decreased neuron mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP MGI PMID:22110743 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Tfam transcription factor A, mitochondrial IAGP MGI PMID:22110743 NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110
JBrowse link
decreased skeletal muscle fiber mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A IAGP MGI PMID:29898916 NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
JBrowse link
G Dguok deoxyguanosine kinase IAGP MGI PMID:31127938 NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951
JBrowse link
G Myl1 myosin, light polypeptide 1 IAGP MGI PMID:29898916 NCBI chr 1:66,963,454...66,987,091
Ensembl chr 1:66,963,454...66,984,563
JBrowse link
G Serac1 serine active site containing 1 IAGP MGI PMID:35235340 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
JBrowse link
increased hepatocyte mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:37524868 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317
JBrowse link
G Thrap3 thyroid hormone receptor associated protein 3 IAGP MGI PMID:37524868 NCBI chr 4:126,057,875...126,096,548
Ensembl chr 4:126,057,875...126,096,553
JBrowse link
increased mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP MGI PMID:23851121 NCBI chr17:57,297,264...57,303,371
Ensembl chr17:57,297,305...57,303,188
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 IAGP MGI PMID:24480485 NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495
JBrowse link
G Lrpprc leucine-rich PPR-motif containing IAGP MGI PMID:22045337 NCBI chr17:85,012,675...85,098,214
Ensembl chr17:85,012,675...85,098,217
JBrowse link
G Mettl15 methyltransferase like 15 IAGP MGI PMID:35682734 NCBI chr 2:108,922,642...109,111,100
Ensembl chr 2:108,922,642...109,111,093
JBrowse link
G Mfn1 mitofusin 1 IAGP MGI PMID:33674260 NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388
JBrowse link
G Mfn2 mitofusin 2 IAGP MGI PMID:33674260 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mrps12 mitochondrial ribosomal protein S12 IAGP MGI PMID:31721250 NCBI chr 7:28,439,066...28,441,246
Ensembl chr 7:28,439,066...28,441,245
JBrowse link
G Mss51 MSS51 mitochondrial translational activator IAGP MGI PMID:29913553 NCBI chr14:20,532,925...20,546,969
Ensembl chr14:20,532,935...20,546,969
JBrowse link
G Mterf2 mitochondrial transcription termination factor 2 IAGP MGI PMID:19490905 NCBI chr10:84,951,092...84,963,982
Ensembl chr10:84,955,297...84,963,891
JBrowse link
G Nsun4 NOL1/NOP2/Sun domain family, member 4 IAGP MGI PMID:24516400 NCBI chr 4:115,890,202...115,911,076
Ensembl chr 4:115,890,039...115,911,073
JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 IAGP MGI PMID:23150520 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:27689697 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit IAGP MGI PMID:24271779 NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Tefm transcription elongation factor, mitochondrial IAGP MGI PMID:31036713 NCBI chr11:80,027,500...80,033,697
Ensembl chr11:80,027,504...80,033,001
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase IAGP MGI PMID:27689697 NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 IAGP MGI PMID:29977031 NCBI chr 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228
JBrowse link
increased myocardial fiber mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog IAGP MGI PMID:29969932 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
increased skeletal muscle fiber mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap1 CDK5 regulatory subunit associated protein 1 IAGP MGI PMID:25738458 NCBI chr 2:154,063,931...154,216,170
Ensembl chr 2:154,177,300...154,214,930
JBrowse link
G Mterf2 mitochondrial transcription termination factor 2 IAGP MGI PMID:19490905 NCBI chr10:84,951,092...84,963,982
Ensembl chr10:84,955,297...84,963,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17088
    cellular phenotype 5460
      abnormal cell morphology 2034
        abnormal intracellular organelle morphology 707
          abnormal mitochondrial morphology 315
            abnormal mitochondrial chromosome morphology 59
              decreased mitochondrial DNA content + 37
              increased mitochondrial DNA content + 19
paths to the root