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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 physiology
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Accession:MP:0014241 term browser browse the term
Definition:any functional anomaly in the organized components of distincive morphology and function that occur within a cell


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abnormal base-excision repair term browser
Symbol Object Name Qualifiers 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
abnormal lysosome physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a6 solute carrier family 9 member A6 IMP RGD PMID:34928329 RGD:151664747 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Slc9a6 em1Moro solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro IMP RGD PMID:34928329 RGD:151664747
abnormal mitochondrial physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrs2 magnesium transporter MRS2 IMP DNA:missense mutation:intron (Mrs2) RGD PMID:21253565 RGD:12793070 NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887 		JBrowse link
G Mrs2dmyKyo MRS2 magnesium transporter; demyelination mutant, Kyo IMP DNA:missense mutation:intron (Mrs2) RGD PMID:21253565 RGD:12793070
abnormal respiratory electron transport chain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isca1 iron-sulfur cluster assembly 1 IMP RGD PMID:31016283 RGD:39131292 NCBI chr17:4,905,291...4,917,955
Ensembl chr17:4,905,287...4,917,955 		JBrowse link
increased endoplasmic reticulum stress term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
G Wfs1 wolframin ER transmembrane glycoprotein onset
treatment		 IMP RGD PMID:28860598 PMID:29976929 RGD:149735331, RGD:150519890 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset
treatment		 IMP RGD PMID:28860598 PMID:29976929 RGD:149735331, RGD:150519890
lysosomal protein accumulation term browser
Symbol Object Name Qualifiers 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:34541380 PMID:34320241 RGD:401976419, RGD:401976418
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5420
    cellular phenotype 188
      abnormal cell physiology 147
        abnormal intracellular organelle physiology 22
          abnormal DNA repair + 3
          abnormal DNA replication + 1
          abnormal chromosome stability + 0
          abnormal endoplasmic reticulum physiology + 6
          abnormal lysosome physiology + 6
          abnormal mitochondrial physiology + 6
          abnormal peroxisome physiology 0
          abnormal ribosome physiology + 0
          abnormal translation + 0
paths to the root