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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 axon morphology
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Accession:MP:0014329 term browser browse the term
Definition:any structural anomaly of the single process of a Purkinje cell that normally conducts impulses away from the cell body
Synonyms:exact_synonym: abnormal Purkinje cell axonal morphology;   abnormal Purkinje nerve fiber morphology


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abnormal Purkinje cell axon morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3, epithelial IAGP MGI PMID:25552556 NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268 		JBrowse link
G Ap5z1 adaptor-related protein complex 5, zeta 1 subunit IAGP MGI PMID:30930081 NCBI chr 5:142,448,960...142,464,471
Ensembl chr 5:142,449,699...142,464,465 		JBrowse link
G Atm ataxia telangiectasia mutated IAGP MGI PMID:10716718 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MGI PMID:18597946 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Ccr10 C-C motif chemokine receptor 10 IAGP MGI PMID:16551741 PMID:17549747 NCBI chr11:101,063,824...101,066,269
Ensembl chr11:101,063,823...101,066,269 		JBrowse link
G Chp1 calcineurin-like EF hand protein 1 IAGP MGI PMID:23904602 NCBI chr 2:119,378,172...119,417,505
Ensembl chr 2:119,378,178...119,417,508 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP MGI PMID:19185024 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555 		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 Cntnap1 contactin associated protein-like 1 IAGP MGI PMID:16551741 PMID:17549747 NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550 		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 Mtcl1 microtubule crosslinking factor 1 IAGP MGI PMID:28283581 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745 		JBrowse link
G Nfasc neurofascin IAGP MGI PMID:19185024 NCBI chr 1:132,492,428...132,669,567
Ensembl chr 1:132,492,428...132,669,535 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 IAGP MGI PMID:11530237 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Psmf1 proteasome (prosome, macropain) inhibitor subunit 1 IAGP MGI PMID:31754024 NCBI chr 2:151,557,982...151,586,114
Ensembl chr 2:151,557,732...151,586,106 		JBrowse link
G Sacs sacsin IAGP MGI PMID:25260547 NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144 		JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 IAGP MGI PMID:23904602 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 IAGP MGI PMID:21964919 NCBI chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		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 Ugt8a UDP galactosyltransferase 8A IAGP MGI PMID:16551741 NCBI chr 3:125,655,071...125,732,301
Ensembl chr 3:125,658,920...125,732,268 		JBrowse link
abnormal Purkinje cell focal axonal swelling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 IAGP MGI PMID:17693261 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 IAGP MGI PMID:12528192 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Psmf1 proteasome (prosome, macropain) inhibitor subunit 1 IAGP MGI PMID:31754024 NCBI chr 2:151,557,982...151,586,114
Ensembl chr 2:151,557,732...151,586,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17088
    nervous system phenotype 4651
      abnormal nervous system morphology 3675
        abnormal neuron morphology 2035
          abnormal Purkinje cell morphology 287
            abnormal Purkinje cell axon morphology 20
              abnormal Purkinje cell focal axonal swelling 3
Path 2
Term Annotations click to browse term
  mammalian phenotype 17088
    nervous system phenotype 4651
      abnormal nervous system morphology 3675
        abnormal brain morphology 2185
          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 axon morphology 20
                          abnormal Purkinje cell focal axonal swelling 3
paths to the root