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
Accession: MP:0000878
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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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
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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
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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
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Ank3
ankyrin 3, epithelial
IAGP
MGI
PMID:9832557
NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268
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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
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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
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Arsg
arylsulfatase G
IAGP
MGI
PMID:22689975
NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156
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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
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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
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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
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Atxn7
ataxin 7
IAGP
MGI
PMID:22002997
NCBI chr14:8,358,358...8,508,324
Ensembl chr14:8,362,461...8,508,323
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Dnm1l
dynamin 1-like
IAGP
MGI
PMID:19752021
NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Il10
interleukin 10
IEA
MGI
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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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
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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
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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
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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
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Kl
klotho
IAGP
MGI
PMID:9363890
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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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
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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
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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
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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
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Lyst
lysosomal trafficking regulator
IEA
MGI
NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388
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Morc2a
microrchidia 2A
IAGP
MGI
PMID:34695197
NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Pfdn5
prefoldin 5
IAGP
MGI
PMID:20956523
NCBI chr15:102,234,551...102,239,925
Ensembl chr15:102,234,551...102,240,308
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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
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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
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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
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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
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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
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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
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Psap
prosaposin
IAGP
MGI
PMID:20015957
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Sqstm1
sequestosome 1
IAGP
MGI
PMID:18083104
NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
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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
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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
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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
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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
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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
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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
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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
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Vim
vimentin
IAGP
MGI
PMID:9888296
NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
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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
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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
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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
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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
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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
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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
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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
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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
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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
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