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
Accession: MP:0014342
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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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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
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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
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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
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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
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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
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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
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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
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Plec
plectin
IAGP
MGI
PMID:18490514
NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Dnm1l
dynamin 1-like
IAGP
MGI
PMID:20585624
NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
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Fxn
frataxin
IAGP
MGI
PMID:11175786
NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
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Hdac3
histone deacetylase 3
IAGP
MGI
PMID:18830415
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Des
desmin
IAGP
MGI
PMID:25394388
NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
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Dst
dystonin
IAGP
MGI
PMID:10357897
NCBI chr 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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