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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 brain ventricular system morphology
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Accession:MP:0002200 term browser browse the term
Definition:any structural anomaly of the brain ventricles, their associated choroid plexuses or the intercommunicating channels that connect the ventricular system
Synonyms:exact_synonym: abnormal brain ventricle/choroid plexus;   abnormal choroid/ventricle
 related_synonym: abnormal brain ventricle/choroid plexus morphology


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abnormal lateral ventricle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit IMP RGD PMID:26873552 RGD:11573213 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Depdc5em1Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo IMP RGD PMID:26873552 RGD:11573213
G Depdc5em2Kyo DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo IMP RGD PMID:26873552 RGD:11573213
dilated lateral ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
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
enlarged brain ventricles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:33450391 RGD:126781687 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:33450391 RGD:126781687
enlarged fourth ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule IMP RGD PMID:30738385 RGD:14695001 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
enlarged lateral ventricles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
G L1cam L1 cell adhesion molecule IMP RGD PMID:30738385 RGD:14695001 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
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
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
hydrocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
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
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5420
    nervous system phenotype 376
      abnormal nervous system morphology 214
        abnormal brain morphology 139
          abnormal brain ventricular system morphology 34
            abnormal brain interventricular foramen morphology 0
            abnormal brain ventricle morphology + 31
            abnormal cerebral aqueduct morphology + 0
            abnormal lateral aperture morphology 0
            abnormal median aperture morphology + 0
            hydrocephaly + 12
paths to the root