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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 cell morphology
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Accession:MP:0000358 term browser browse the term
Definition:any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms
Synonyms:exact_synonym: abnormal cell;   abnormal cell content or morphology;   cell abnormalities;   cellular abnormalities
 narrow_synonym: abnormal cell content
 alt_id: MP:0000311;   MP:0000312


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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 intestinal goblet cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 IMP RGD PMID:31875236 RGD:127285808 NCBI chr14:1,184,677...1,216,392 JBrowse link
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
absent germ cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY RGD PMID:22655094 RGD:40924659
absent oocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 IMP compared to wild type RGD PMID:28520870 RGD:38548924 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar IMP compared to wild type RGD PMID:28520870 RGD:38548924
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
azoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf1 SET binding factor 1 IAGP DNA:substitution:intron 37:G>A (rat) RGD PMID:27335132 RGD:38549340 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Sbf1m1Ipcv SET binding factor 1; mutation 1, Institute of Physiology, Czechoslovac Academy of Sciences IAGP RGD PMID:27335132 RGD:38549340
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 brain ependyma motile cilium length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
increased kidney epithelial cell primary cilium length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667 NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667
G Tmem67 transmembrane protein 67 IAGP RGD PMID:19515853 RGD:8554306 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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
short sperm flagellum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:19515853 RGD:8554306 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5380
    cellular phenotype 176
      abnormal cell morphology 44
        abnormal cell mass + 1
        abnormal cellular ATP level + 0
        abnormal cilium morphology + 6
        abnormal foam cell morphology + 0
        abnormal germ cell morphology + 11
        abnormal intestinal goblet cell morphology + 1
        abnormal intracellular organelle morphology + 20
        abnormal mesangial cell morphology + 6
        abnormal middle ear goblet cell morphology + 0
        abnormal oligodendrocyte progenitor morphology + 0
        abnormal plasma membrane morphology + 0
paths to the root