Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 cerebellar granule cell morphology
go back to main search page
Accession:MP:0004098 term browser browse the term
Definition:any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites
Synonyms:exact_synonym: abnormal cerebellar granule neuron morphology
 broad_synonym: Abnormal cerebellar cortex morphology;   abnormal granule cell;   abnormal granule neuron
 xref: CL:0001031;   HP:0031422


show annotations for term's descendants           Sort by:
abnormal cerebellar granule cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 IAGP MGI PMID:19625515 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 IAGP MGI PMID:12353028 NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Astn1 astrotactin 1 IAGP MGI PMID:11861479 NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351 		JBrowse link
G Atg5 autophagy related 5 IAGP MGI PMID:16625204 NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287 		JBrowse link
G Atg7 autophagy related 7 IAGP MGI PMID:33082312 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575 		JBrowse link
G Atm ataxia telangiectasia mutated IAGP MGI PMID:9356511 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 IAGP MGI PMID:9668038 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Bid BH3 interacting domain death agonist IAGP MGI PMID:12934064 NCBI chr 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MGI PMID:21870131 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 IAGP MGI PMID:25698737 NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156 		JBrowse link
G Cntn1 contactin 1 IAGP MGI PMID:10595523 NCBI chr15:91,949,034...92,239,834
Ensembl chr15:91,949,046...92,239,848 		JBrowse link
G Cstb cystatin B IAGP MGI PMID:12934064 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Fgf13 fibroblast growth factor 13 IAGP MGI PMID:22726441 NCBI chr  X:58,107,499...58,630,932
Ensembl chr  X:58,107,505...58,613,431 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha 6 IAGP MGI PMID:22252133 NCBI chr11:42,197,264...42,211,977
Ensembl chr11:42,197,264...42,211,899 		JBrowse link
G Gm2a GM2 ganglioside activator protein IAGP MGI PMID:9223328 NCBI chr11:54,988,811...55,003,855
Ensembl chr11:54,988,941...55,003,855 		JBrowse link
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 IAGP MGI PMID:23389689 NCBI chr10:13,841,819...14,027,122
Ensembl chr10:13,841,819...14,027,118 		JBrowse link
G Htra2 HtrA serine peptidase 2 IAGP MGI PMID:25531304 NCBI chr 6:83,028,247...83,031,552
Ensembl chr 6:83,028,247...83,032,254 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 IAGP MGI PMID:3882972 PMID:8855331 NCBI chr16:94,545,839...94,798,719
Ensembl chr16:94,549,495...94,798,560 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain (KIND) containing 1 IAGP MGI PMID:28264072 NCBI chr 7:139,474,612...139,521,453
Ensembl chr 7:139,474,612...139,521,450 		JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 IAGP MGI PMID:20659958 NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662 		JBrowse link
G Nfia nuclear factor I/A IAGP MGI PMID:17553984 NCBI chr 4:97,469,534...98,007,113
Ensembl chr 4:97,660,971...98,007,111 		JBrowse link
G Nfib nuclear factor I/B IAGP MGI PMID:17553984 NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IAGP MGI PMID:10704394 NCBI chr11:98,658,758...98,666,233
Ensembl chr11:98,658,758...98,666,159 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like IAGP MGI PMID:25652406 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:16289327 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pdyn prodynorphin IAGP MGI PMID:17347252 NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
G Plxnb2 plexin B2 IAGP MGI PMID:17554007 NCBI chr15:89,039,752...89,064,960
Ensembl chr15:89,039,752...89,064,991 		JBrowse link
G Psap prosaposin IAGP MGI PMID:20175216 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Pten phosphatase and tensin homolog IAGP MGI PMID:11726926 PMID:15944184 PMID:27815386 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Rb1 RB transcriptional corepressor 1 IAGP MGI PMID:12810584 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rora RAR-related orphan receptor alpha IAGP MGI PMID:641237 PMID:4673255 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528 		JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:15183722 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Slc12a5 solute carrier family 12, member 5 IAGP MGI PMID:22252133 NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651 		JBrowse link
G Smad2 SMAD family member 2 IAGP MGI PMID:21464123 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Sorcs2 sortilin-related VPS10 domain containing receptor 2 IAGP MGI PMID:24908487 NCBI chr 5:36,174,524...36,555,541
Ensembl chr 5:36,174,524...36,555,483 		JBrowse link
G Trio triple functional domain (PTPRF interacting) IAGP MGI PMID:20516067 NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
G Tubb4a tubulin, beta 4A class IVA IAGP MGI PMID:35171680 NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782 		JBrowse link
G Usp14 ubiquitin specific peptidase 14 IAGP MGI PMID:10889334 NCBI chr18:9,993,615...10,030,149
Ensembl chr18:9,993,066...10,045,119 		JBrowse link
G Wdr45b WD repeat domain 45B IAGP MGI PMID:33082312 NCBI chr11:121,218,029...121,246,393
Ensembl chr11:121,218,050...121,245,271 		JBrowse link
absent cerebellar granule cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rora RAR-related orphan receptor alpha IAGP MGI PMID:9520475 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528 		JBrowse link
decreased cerebellar granule cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ataxia telangiectasia and Rad3 related IAGP MGI PMID:22266795 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Bax BCL2-associated X protein IAGP MGI PMID:10804210 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:28317875 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 IAGP MGI PMID:25698737 NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156 		JBrowse link
G Eno2 enolase 2, gamma neuronal IAGP MGI PMID:18758458 NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636 		JBrowse link
G Grid2 glutamate receptor, ionotropic, delta 2 IAGP MGI PMID:10804210 PMID:25250835 NCBI chr 6:63,230,118...64,681,305
Ensembl chr 6:63,232,860...64,681,307 		JBrowse link
G Gtpbp2 GTP binding protein 2 IAGP MGI PMID:25061210 NCBI chr17:46,470,153...46,480,294
Ensembl chr17:46,471,958...46,480,296 		JBrowse link
G Lig3 ligase III, DNA, ATP-dependent IAGP MGI PMID:21390131 NCBI chr11:82,671,977...82,695,100
Ensembl chr11:82,671,934...82,695,100 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 IAGP MGI PMID:21674502 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Mdm4 transformed mouse 3T3 cell double minute 4 IAGP MGI PMID:21674502 NCBI chr 1:132,913,843...132,958,325
Ensembl chr 1:132,887,222...132,958,299 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived IAGP MGI PMID:22879379 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G n-TRtct5 nuclear encoded tRNA arginine 5 (anticodon TCT) IAGP MGI PMID:25061210 NCBI chr 1:173,217,895...173,217,968 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like IAGP MGI PMID:25652406 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Pelo pelota mRNA surveillance and ribosome rescue factor IAGP MGI PMID:33899734 NCBI chr13:115,224,891...115,226,694
Ensembl chr13:115,224,891...115,226,722 		JBrowse link
G Prkab1 protein kinase, AMP-activated, beta 1 non-catalytic subunit IAGP MGI PMID:19217427 NCBI chr 5:116,151,654...116,162,449
Ensembl chr 5:116,151,645...116,162,567 		JBrowse link
G Psap prosaposin IAGP MGI PMID:20175216 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Pura purine rich element binding protein A IAGP MGI PMID:22010047 NCBI chr18:36,413,614...36,434,575
Ensembl chr18:36,414,150...36,425,588 		JBrowse link
G Rora RAR-related orphan receptor alpha IAGP MGI PMID:1511513 PMID:4673255 PMID:20722722 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528 		JBrowse link
G Rpl27a ribosomal protein L27A IAGP MGI PMID:21674502 NCBI chr 7:109,118,354...109,121,967
Ensembl chr 7:109,118,354...109,121,574 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha IEA MGI NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase IAGP MGI PMID:23035106 NCBI chr 3:28,317,362...28,724,734
Ensembl chr 3:28,317,363...28,730,007 		JBrowse link
G Trp53 transformation related protein 53 IAGP MGI PMID:21674502 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Upf2 UPF2 regulator of nonsense transcripts homolog (yeast) IAGP MGI PMID:33899734 NCBI chr 2:5,956,218...6,061,514
Ensembl chr 2:5,956,280...6,061,514 		JBrowse link
G Wdr81 WD repeat domain 81 IAGP MGI PMID:23595742 NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543 		JBrowse link
ectopic cerebellar granule cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase IAGP MGI PMID:20980600 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase IAGP MGI PMID:20980600 NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138 		JBrowse link
G Abr active BCR-related gene IAGP MGI PMID:11684658 NCBI chr11:76,307,560...76,468,515
Ensembl chr11:76,307,560...76,514,384 		JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 IAGP MGI PMID:19515912 NCBI chr 8:95,701,321...95,740,836
Ensembl chr 8:95,701,379...95,740,845 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 IAGP MGI PMID:21159799 NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 IAGP MGI PMID:22573669 NCBI chr10:80,131,790...80,154,091
Ensembl chr10:80,131,811...80,154,097 		JBrowse link
G Astn1 astrotactin 1 IAGP MGI PMID:11861479 NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase IAGP MGI PMID:11684658 NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753 		JBrowse link
G Cdk5r1 cyclin dependent kinase 5, regulatory subunit 1 IAGP MGI PMID:14627648 NCBI chr11:80,367,849...80,372,010
Ensembl chr11:80,367,849...80,372,010 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:28165338 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Crk v-crk avian sarcoma virus CT10 oncogene homolog IAGP MGI PMID:19074029 NCBI chr11:75,570,020...75,599,254
Ensembl chr11:75,570,085...75,597,734 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP MGI PMID:19074029 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		JBrowse link
G Gja1 gap junction protein, alpha 1 IAGP MGI PMID:17311295 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:23100420 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) IAGP MGI PMID:23100420 NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:1523694 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Plxna2 plexin A2 IAGP MGI PMID:18327254 NCBI chr 1:194,302,020...194,499,177
Ensembl chr 1:194,300,526...194,499,177 		JBrowse link
G Plxnb1 plexin B1 IAGP MGI PMID:26579598 NCBI chr 9:108,922,915...108,948,983
Ensembl chr 9:108,924,457...108,948,985 		JBrowse link
G Plxnb2 plexin B2 IAGP MGI PMID:17409257 PMID:26579598 NCBI chr15:89,039,752...89,064,960
Ensembl chr15:89,039,752...89,064,991 		JBrowse link
G Pomk protein-O-mannose kinase IAGP MGI PMID:21746835 NCBI chr 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161 		JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 IAGP MGI PMID:9779941 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
G Pten phosphatase and tensin homolog IAGP MGI PMID:27815386 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ric8a RIC8 guanine nucleotide exchange factor A IAGP MGI PMID:23100420 NCBI chr 7:140,437,310...140,443,644
Ensembl chr 7:140,436,870...140,444,285 		JBrowse link
G Rora RAR-related orphan receptor alpha IAGP MGI PMID:20722722 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528 		JBrowse link
G Sema4c sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C IAGP MGI PMID:21122816 NCBI chr 1:36,587,720...36,599,780
Ensembl chr 1:36,587,720...36,597,430 		JBrowse link
G Sema4g sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G IAGP MGI PMID:21122816 NCBI chr19:44,976,838...44,991,836
Ensembl chr19:44,977,540...44,991,836 		JBrowse link
G Sema6a sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A IAGP MGI PMID:18327254 NCBI chr18:47,378,321...47,504,267
Ensembl chr18:47,368,665...47,501,937 		JBrowse link
G Unc5c unc-5 netrin receptor C IAGP MGI PMID:1401878 PMID:9126743 PMID:9389662 PMID:9550145 NCBI chr 3:141,171,360...141,540,685
Ensembl chr 3:141,170,977...141,540,685 		JBrowse link
increased cerebellar granule cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MGI PMID:28688851 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Rag1 recombination activating 1 IAGP MGI PMID:16751807 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 IAGP MGI PMID:16751807 NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17059
    nervous system phenotype 4634
      abnormal nervous system morphology 3661
        abnormal brain morphology 2179
          abnormal hindbrain morphology 675
            abnormal metencephalon morphology 591
              abnormal cerebellum morphology 551
                abnormal cerebellar cortex morphology 429
                  abnormal cerebellar layer morphology 385
                    abnormal cerebellar granule layer morphology 145
                      abnormal cerebellar granule cell morphology 84
                        decreased cerebellar granule cell number + 24
                        ectopic cerebellar granule cells 28
                        increased cerebellar granule cell number 3
paths to the root