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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 muscle fiber mitochondrial morphology
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Accession:MP:0014342 term browser browse the term
Definition:any structural anomaly of the semiautonomous, self replicating organelles in muscle fibers
Synonyms:exact_synonym: abnormal muscle fiber mitochondrion morphology;   abnormal muscle fibre mitochondria morphology



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abnormal muscle fiber mitochondrial morphology 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 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 Cox15 cytochrome c oxidase assembly protein 15 IAGP MGI PMID:21723506 NCBI chr19:43,721,693...43,741,439
Ensembl chr19:43,721,693...43,741,439
JBrowse link
G Immt inner membrane protein, mitochondrial IAGP MGI PMID:36974636 NCBI chr 6:71,806,200...71,852,250
Ensembl chr 6:71,808,315...71,854,372
JBrowse link
G Mrtfa myocardin related transcription factor A IAGP MGI PMID:16847333 NCBI chr15:80,896,482...81,074,937
Ensembl chr15:80,896,482...81,074,958
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 Oma1 OMA1 zinc metallopeptidase IAGP MGI PMID:35700042 NCBI chr 4:103,170,991...103,229,066
Ensembl chr 4:103,171,009...103,229,065
JBrowse link
G Plec plectin IAGP MGI PMID:18490514 NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
JBrowse link
G Ptprv protein tyrosine phosphatase receptor type V IAGP MGI PMID:17693256 NCBI chr 1:135,036,236...135,060,313
Ensembl chr 1:135,036,235...135,060,332
JBrowse link
abnormal fetal cardiomyocyte mitochondrial morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 IAGP MGI PMID:24082093 NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403
JBrowse link
G Hccs holocytochrome c synthetase IAGP MGI PMID:18854137 NCBI chr  X:168,094,526...168,103,361
Ensembl chr  X:168,033,189...168,103,368
JBrowse link
G Hexim1 hexamethylene bis-acetamide inducible 1 IAGP MGI PMID:15172687 NCBI chr11:103,007,151...103,010,551
Ensembl chr11:103,007,057...103,010,551
JBrowse link
G Nkx2-5 NK2 homeobox 5 IAGP MGI PMID:18854137 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma IAGP MGI PMID:10549290 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac IAGP MGI PMID:9628868 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
JBrowse link
G Slc8a1 solute carrier family 8 (sodium/calcium exchanger), member 1 IAGP MGI PMID:12781968 NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806
JBrowse link
abnormal myocardial fiber mitochondrial morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 IAGP MGI PMID:25422440 NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296
JBrowse link
G Abcc9 ATP-binding cassette, sub-family C member 9 IAGP MGI PMID:24648545 NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041
JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 IAGP MGI PMID:37229825 NCBI chr 8:105,065,993...105,074,304
Ensembl chr 8:105,066,042...105,074,304
JBrowse link
G Dnm1l dynamin 1-like IAGP MGI PMID:20585624 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
JBrowse link
G Fxn frataxin IAGP MGI PMID:11175786 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
JBrowse link
G Hdac3 histone deacetylase 3 IAGP MGI PMID:18830415 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
JBrowse link
G Micu2 mitochondrial calcium uptake 2 IAGP MGI PMID:29073106 NCBI chr14:58,153,718...58,236,716
Ensembl chr14:58,153,718...58,236,719
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 IAGP MGI PMID:24589777 NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
JBrowse link
G Nfatc3 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 IAGP MGI PMID:12750314 NCBI chr 8:106,785,450...106,857,169
Ensembl chr 8:106,785,472...106,857,169
JBrowse link
G Nfatc4 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 IAGP MGI PMID:12750314 NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400
JBrowse link
G Nsun3 NOL1/NOP2/Sun domain family member 3 IAGP MGI PMID:36949224 NCBI chr16:62,552,807...62,607,238
Ensembl chr16:62,552,807...62,607,181
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 IAGP MGI PMID:21857651 NCBI chr 7:141,035,101...141,040,656
Ensembl chr 7:141,035,111...141,040,656
JBrowse link
G Ppargc1b peroxisome proliferative activated receptor, gamma, coactivator 1 beta IAGP MGI PMID:17090215 NCBI chr18:61,424,516...61,533,846
Ensembl chr18:61,431,207...61,533,502
JBrowse link
G Pptc7 PTC7 protein phosphatase homolog IAGP MGI PMID:31324765 NCBI chr 5:122,422,461...122,462,344
Ensembl chr 5:122,422,428...122,462,344
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 Tecrl trans-2,3-enoyl-CoA reductase-like IAGP MGI PMID:35577932 NCBI chr 5:83,425,969...83,503,042
Ensembl chr 5:83,425,992...83,503,042
JBrowse link
G Yme1l1 YME1-like 1 (S. cerevisiae) IAGP MGI PMID:26785494 NCBI chr 2:23,046,517...23,089,272
Ensembl chr 2:23,046,381...23,089,272
JBrowse link
abnormal skeletal muscle fiber mitochondrial morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 IAGP MGI PMID:20357764 NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
JBrowse link
G Ano5 anoctamin 5 IAGP MGI PMID:26911675 NCBI chr 7:51,160,668...51,248,459
Ensembl chr 7:51,160,777...51,248,457
JBrowse link
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing IAGP MGI PMID:33686286 NCBI chr11:120,563,878...120,600,273
Ensembl chr11:120,563,799...120,600,273
JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit IAGP MGI PMID:26965373 NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560
JBrowse link
G Des desmin IAGP MGI PMID:25394388 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
JBrowse link
G Dst dystonin IAGP MGI PMID:10357897 NCBI chr 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742
JBrowse link
G Etfdh electron transferring flavoprotein, dehydrogenase IAGP MGI PMID:38243131 NCBI chr 3:79,511,095...79,536,074
Ensembl chr 3:79,511,095...79,536,807
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IAGP MGI PMID:22078881 NCBI chr11:62,207,132...62,348,200
Ensembl chr11:62,207,252...62,349,367
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 IAGP MGI PMID:24589777 NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
JBrowse link
G Ppargc1b peroxisome proliferative activated receptor, gamma, coactivator 1 beta IAGP MGI PMID:17090215 NCBI chr18:61,424,516...61,533,846
Ensembl chr18:61,431,207...61,533,502
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle IAGP MGI PMID:31044239 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IAGP MGI PMID:19776389 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Stim1 stromal interaction molecule 1 IAGP MGI PMID:30576443 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526
JBrowse link
G Vdac3 voltage-dependent anion channel 3 IAGP MGI PMID:11507092 NCBI chr 8:23,067,091...23,083,829
Ensembl chr 8:23,067,102...23,083,774
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 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 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 17090
    muscle phenotype 1983
      abnormal muscle morphology 1466
        abnormal muscle fiber morphology 604
          abnormal muscle fiber mitochondrial morphology 58
            abnormal fetal cardiomyocyte mitochondrial morphology 7
            abnormal myocardial fiber mitochondrial morphology + 26
            abnormal skeletal muscle fiber mitochondrial morphology + 20
            decreased muscle fiber mitochondrial DNA content + 14
            increased muscle fiber mitochondrial DNA content + 3
Path 2
Term Annotations click to browse term
  mammalian phenotype 17090
    cellular phenotype 5463
      abnormal cell morphology 2034
        abnormal intracellular organelle morphology 707
          abnormal mitochondrial morphology 315
            abnormal muscle fiber mitochondrial morphology 58
              abnormal fetal cardiomyocyte mitochondrial morphology 7
              abnormal myocardial fiber mitochondrial morphology + 26
              abnormal skeletal muscle fiber mitochondrial morphology + 20
              decreased muscle fiber mitochondrial DNA content + 14
              increased muscle fiber mitochondrial DNA content + 3
paths to the root