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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 intracellular organelle morphology
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Accession:MP:0014239 term browser browse the term
Definition:any anomaly in the structure of the organized components of distincive morphology and function that occur within a cell


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abnormal actin cytoskeleton morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
abnormal endoplasmic reticulum morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA IAGP DNA:rearrangement, deletion:exon:141-bp deletion position 1442-1582 RGD PMID:17185506 RGD:1600835 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
G Tg thyroglobulin IAGP DNA:missense mutation:cds:p.G2320R (rat) RGD PMID:11089535 RGD:730133 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP compared to wild type and heterozygotes RGD PMID:11089535 RGD:730133
abnormal lysosome morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha IMP compared to wild type RGD PMID:34320241 PMID:34541380 RGD:401976418, RGD:401976419 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:34320241 PMID:34541380 RGD:401976418, RGD:401976419
abnormal mitochondrial crista morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22629444 RGD:7240532 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
abnormal vacuole morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP seminiferous tubule; compared to SD RGD PMID:28834365 RGD:14995504 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage IMP seminiferous tubule; compared to SD RGD PMID:28834365 RGD:14995504
accumulation of giant lysosomes in kidney/renal tubule cells term browser
Symbol Object Name 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
binucleate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:11932363 RGD:13204832 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:11932363 RGD:13204832
decreased mitochondrial DNA content term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor IMP RGD PMID:31644904 RGD:126925983 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen IMP RGD PMID:31644904 RGD:126925983
decreased mitochondrial size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22629444 RGD:7240532 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
increased mitochondrial size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin IMP RGD PMID:29223733 RGD:401793739 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5417
    cellular phenotype 184
      abnormal cell morphology 47
        abnormal intracellular organelle morphology 23
          abnormal Golgi apparatus morphology + 1
          abnormal cell cytoskeleton morphology + 2
          abnormal cell nucleus morphology + 3
          abnormal chromatoid body morphology 0
          abnormal endoplasmic reticulum morphology 5
          abnormal mitochondrial morphology + 5
          abnormal peroxisome morphology 0
          abnormal ribosome morphology 0
          abnormal vacuole morphology + 7
paths to the root