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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 Purkinje cell number
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Accession:MP:0000878 term browser browse the term
Definition:different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex



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decreased Purkinje cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-Coenzyme A binding domain containing 5 IAGP MGI PMID:33244184 NCBI chr 2:22,958,189...23,004,525
Ensembl chr 2:22,958,179...23,005,570
JBrowse link
G Agtpbp1 ATP/GTP binding protein 1 IAGP MGI PMID:2077109 PMID:3678603 PMID:12787313 NCBI chr13:59,597,348...59,705,184
Ensembl chr13:59,593,556...59,733,041
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor IAGP MGI PMID:16321985 NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390
JBrowse link
G Ank3 ankyrin 3, epithelial IAGP MGI PMID:9832557 NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268
JBrowse link
G Ankrd16 ankyrin repeat domain 16 IAGP MGI PMID:29769718 NCBI chr 2:11,781,902...11,795,138
Ensembl chr 2:11,782,687...11,795,140
JBrowse link
G Arcn1 archain 1 IAGP MGI PMID:20502676 NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142
JBrowse link
G Arsg arylsulfatase G IAGP MGI PMID:22689975 NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156
JBrowse link
G Atf2 activating transcription factor 2 IAGP MGI PMID:8538792 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983
JBrowse link
G Atg7 autophagy related 7 IAGP MGI PMID:18083104 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
JBrowse link
G Atxn1 ataxin 1 IAGP MGI PMID:12086639 PMID:17322884 PMID:22053053 NCBI chr13:45,703,231...46,118,467
Ensembl chr13:45,703,231...46,118,484
JBrowse link
G Atxn7 ataxin 7 IAGP MGI PMID:22002997 NCBI chr14:8,358,358...8,508,324
Ensembl chr14:8,362,461...8,508,323
JBrowse link
G B4galt2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 IAGP MGI PMID:19265195 NCBI chr 4:117,730,211...117,740,724
Ensembl chr 4:117,726,457...117,740,684
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 Bmi1 Bmi1 polycomb ring finger oncogene IAGP MGI PMID:7926765 NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
JBrowse link
G Braf Braf transforming gene IAGP MGI PMID:23505473 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MGI PMID:22850483 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit IAGP MGI PMID:21621520 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 IAGP MGI PMID:4177347 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542
JBrowse link
G Cadps2 Ca2+-dependent activator protein for secretion 2 IAGP MGI PMID:17380209 NCBI chr 6:23,262,765...23,840,662
Ensembl chr 6:23,262,772...23,839,420
JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV IAGP MGI PMID:11069976 NCBI chr18:33,067,995...33,328,820
Ensembl chr18:33,067,984...33,324,281
JBrowse link
G Cbln1os cerebellin 1 precursor protein opposite strand IAGP MGI PMID:33762741 NCBI chr 8:88,199,440...88,252,182
Ensembl chr 8:88,187,097...88,252,195
JBrowse link
G Cers1 ceramide synthase 1 IAGP MGI PMID:23074226 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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 Dnm1l dynamin 1-like IAGP MGI PMID:19752021 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
JBrowse link
G Ebf2 early B cell factor 2 IAGP MGI PMID:16774995 NCBI chr14:67,470,741...67,668,401
Ensembl chr14:67,470,741...67,668,367
JBrowse link
G Egfr epidermal growth factor receptor IAGP MGI PMID:7618084 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Ei24 etoposide induced 2.4 mRNA IAGP MGI PMID:23074225 NCBI chr 9:36,690,449...36,708,630
Ensembl chr 9:36,690,455...36,708,689
JBrowse link
G En1 engrailed 1 IAGP MGI PMID:17664423 PMID:19752021 PMID:33899734 NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 IAGP MGI PMID:9362461 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
JBrowse link
G Fas Fas cell surface death receptor IAGP MGI PMID:12787313 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 IAGP MGI PMID:21827743 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IAGP MGI PMID:17442505 NCBI chr  X:67,722,144...67,761,569
Ensembl chr  X:67,722,147...67,761,569
JBrowse link
G Fzd4 frizzled class receptor 4 IAGP MGI PMID:11425903 NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IAGP MGI PMID:21621520 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
JBrowse link
G Gba1 glucosylceramidase beta 1 IAGP MGI PMID:17954912 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
G Golga2 golgin A2 IAGP MGI PMID:28028212 NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933
JBrowse link
G Grid2 glutamate receptor, ionotropic, delta 2 IAGP MGI PMID:2077109 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 Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:21871565 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
JBrowse link
G Hbs1l Hbs1-like (S. cerevisiae) IAGP MGI PMID:33899734 NCBI chr10:21,171,876...21,244,788
Ensembl chr10:21,171,878...21,244,797
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP MGI PMID:3678603 NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057
JBrowse link
G Il10 interleukin 10 IEA MGI NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Immt inner membrane protein, mitochondrial IAGP MGI PMID:36974636 NCBI chr 6:71,806,200...71,852,250
Ensembl chr 6:71,808,315...71,854,372
JBrowse link
G Ireb2 iron responsive element binding protein 2 IAGP MGI PMID:11175792 NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
G Kat2a K(lysine) acetyltransferase 2A IAGP MGI PMID:22002997 NCBI chr11:100,595,572...100,603,293
Ensembl chr11:100,595,572...100,603,291
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 IAGP MGI PMID:2077109 NCBI chr16:94,545,839...94,798,719
Ensembl chr16:94,549,495...94,798,560
JBrowse link
G Kl klotho IAGP MGI PMID:9363890 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
JBrowse link
G Ldb1 LIM domain binding 1 IAGP MGI PMID:17664423 NCBI chr19:46,019,963...46,036,584
Ensembl chr19:46,020,009...46,033,653
JBrowse link
G Ldlr low density lipoprotein receptor IAGP MGI PMID:11530237 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
JBrowse link
G Lhx1 LIM homeobox protein 1 IAGP MGI PMID:17664423 NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361
JBrowse link
G Lhx5 LIM homeobox protein 5 IAGP MGI PMID:17664423 NCBI chr 5:120,569,951...120,579,522
Ensembl chr 5:120,569,764...120,579,288
JBrowse link
G Lyst lysosomal trafficking regulator IEA MGI NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
JBrowse link
G Morc2a microrchidia 2A IAGP MGI PMID:34695197 NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived IAGP MGI PMID:12381668 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) IAGP MGI PMID:17712420 NCBI chr11:100,960,918...100,968,483
Ensembl chr11:100,960,838...100,968,498
JBrowse link
G Neurod1 neurogenic differentiation 1 IAGP MGI PMID:10398678 NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 IAGP MGI PMID:6315811 PMID:11530237 PMID:12528192 PMID:15071184 PMID:21896731 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 IAGP MGI PMID:15071184 NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926
JBrowse link
G Numb NUMB endocytic adaptor protein IAGP MGI PMID:14729486 NCBI chr12:83,840,808...83,968,708
Ensembl chr12:83,840,808...83,968,708
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 alpha 1 IAGP MGI PMID:15569252 NCBI chr  X:158,905,215...158,921,426
Ensembl chr  X:158,905,205...158,921,409
JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 IAGP MGI PMID:21871565 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
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 Pfdn5 prefoldin 5 IAGP MGI PMID:20956523 NCBI chr15:102,234,551...102,239,925
Ensembl chr15:102,234,551...102,240,308
JBrowse link
G Phyh phytanoyl-CoA hydroxylase IAGP MGI PMID:19004801 NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541
JBrowse link
G Phyhipl phytanoyl-CoA hydroxylase interacting protein-like IAGP MGI PMID:33712038 NCBI chr10:70,393,516...70,435,121
Ensembl chr10:70,393,512...70,491,795
JBrowse link
G Pi4k2a phosphatidylinositol 4-kinase type 2 alpha IAGP MGI PMID:19581584 NCBI chr19:42,078,590...42,110,657
Ensembl chr19:42,078,909...42,110,526
JBrowse link
G Pianp PILR alpha associated neural protein IAGP MGI PMID:31511635 NCBI chr 6:124,973,683...124,980,059
Ensembl chr 6:124,973,657...124,980,059
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 IAGP MGI PMID:15051870 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
JBrowse link
G Prnp prion protein IAGP MGI PMID:11179214 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
JBrowse link
G Psap prosaposin IAGP MGI PMID:20015957 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 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Pura purine rich element binding protein A IAGP MGI PMID:12972605 PMID:22010047 NCBI chr18:36,413,614...36,434,575
Ensembl chr18:36,414,150...36,425,588
JBrowse link
G Reln reelin IAGP MGI PMID:1557392 PMID:10876649 NCBI chr 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700
JBrowse link
G Rora RAR-related orphan receptor alpha IAGP MGI PMID:1511513 PMID:9510031 PMID:9520475 NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528
JBrowse link
G Rreb1 ras responsive element binding protein 1 IAGP MGI PMID:38198538 NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha IAGP MGI PMID:19737145 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) IAGP MGI PMID:17571074 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447
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 Skor2 SKI family transcriptional corepressor 2 IAGP MGI PMID:24491816 NCBI chr18:76,934,428...76,988,759
Ensembl chr18:76,944,100...76,988,037
JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 IAGP MGI PMID:29349289 NCBI chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590
JBrowse link
G Smad4 SMAD family member 4 IAGP MGI PMID:12896967 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
JBrowse link
G Sqstm1 sequestosome 1 IAGP MGI PMID:18083104 NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
JBrowse link
G Stxbp1 syntaxin binding protein 1 IAGP MGI PMID:15255974 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
JBrowse link
G Sumf1 sulfatase modifying factor 1 IAGP MGI PMID:17360554 NCBI chr 6:108,083,989...108,162,552
Ensembl chr 6:108,083,989...108,162,543
JBrowse link
G Thrb thyroid hormone receptor beta IAGP MGI PMID:11274423 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435
JBrowse link
G Trim2 tripartite motif-containing 2 IAGP MGI PMID:18687884 NCBI chr 3:84,067,746...84,215,659
Ensembl chr 3:84,067,746...84,214,184
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 IAGP MGI PMID:19351902 NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316
JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MGI PMID:22763451 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
JBrowse link
G Use1 unconventional SNARE in the ER 1 homolog (S. cerevisiae) IAGP MGI PMID:19188447 NCBI chr 8:71,819,329...71,822,376
Ensembl chr 8:71,819,492...71,822,376
JBrowse link
G Vim vimentin IAGP MGI PMID:9888296 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
JBrowse link
G Vps18 VPS18 CORVET/HOPS core subunit IAGP MGI PMID:22854957 NCBI chr 2:119,119,220...119,128,934
Ensembl chr 2:119,119,221...119,128,934
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
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
G Zfp212 Zinc finger protein 212 IAGP MGI PMID:34815492 NCBI chr 6:47,897,502...47,909,573
Ensembl chr 6:47,897,410...47,909,573
JBrowse link
G Zfp423 zinc finger protein 423 IAGP MGI PMID:17524391 NCBI chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223
JBrowse link
increased Purkinje cell number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Crybb2 crystallin, beta B2 IAGP MGI PMID:18385073 NCBI chr 5:113,206,124...113,217,983
Ensembl chr 5:113,206,124...113,217,983
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 IEA MGI NCBI chr16:94,545,839...94,798,719
Ensembl chr16:94,549,495...94,798,560
JBrowse link
G Rbfox2 RNA binding protein, fox-1 homolog (C. elegans) 2 IAGP MGI PMID:22357600 NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16975
    nervous system phenotype 4648
      abnormal nervous system morphology 3675
        abnormal neuron morphology 2025
          abnormal Purkinje cell morphology 287
            abnormal Purkinje cell number 97
              decreased Purkinje cell number 94
              increased Purkinje cell number 4
Path 2
Term Annotations click to browse term
  mammalian phenotype 16975
    nervous system phenotype 4648
      abnormal nervous system morphology 3675
        abnormal brain morphology 2177
          abnormal hindbrain morphology 675
            abnormal metencephalon morphology 591
              abnormal cerebellum morphology 551
                abnormal cerebellar cortex morphology 429
                  abnormal cerebellar layer morphology 385
                    abnormal cerebellar Purkinje cell layer 316
                      abnormal Purkinje cell morphology 287
                        abnormal Purkinje cell number 97
                          decreased Purkinje cell number 94
                          increased Purkinje cell number 4
paths to the root