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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 metencephalon morphology
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Accession:MP:0000847 term browser browse the term
Definition:any structural anomaly of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the cerebellum and the pons Varolii
Synonyms:exact_synonym: abnormal anterior hindbrain morphology;   abnormal anterior rhombencephalon morphology;   abnormal epencephalon morphology;   abnormal rostral hindbrain morphology;   abnormal rostral rhombencephalon morphology
 narrow_synonym: metencephalon dysplasia


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abnormal cerebellar cortex morphology 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
abnormal cerebellar glomerulus morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
absent cerebellum vermis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc5c unc-5 netrin receptor C IAGP RGD PMID:14993736 RGD:1302461 NCBI chr 2:230,180,353...230,535,219
Ensembl chr 2:230,180,951...230,535,217 		JBrowse link
G Unc5ccvd unc-5 netrin receptor C; cerebellar vermis defect IAGP RGD PMID:14993736 RGD:1302461
G Unc5chob unc-5 netrin receptor C; hobble mutant IAGP RGD PMID:14993736 RGD:1302461
decreased pons size term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
decreased Purkinje cell number term browser
Symbol Object Name 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
small cerebellum 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
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
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
thin cerebellar granule layer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
thin cerebellar molecular layer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G PcloTn(sb-B-Geo)Fkh presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh IMP compared to wild-type rat RGD PMID:31074746 RGD:41408338
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5417
    nervous system phenotype 376
      abnormal nervous system morphology 214
        abnormal brain morphology 139
          abnormal hindbrain morphology 18
            abnormal metencephalon morphology 17
              abnormal cerebellum morphology + 17
              abnormal pons morphology + 3
              absent metencephalon 0
paths to the root