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 neuron morphology
Accession: MP:0002882
browse the term
Definition: any structural anomaly of the cells of the nervous system that receive, conduct, and transmit impulses
Synonyms: narrow_synonym: neuron dysplasia
xref: HP:0012757
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
IMP
RGD
PMID:26873552
RGD:11573213
NCBI chr14:81,956,777...82,087,392
Ensembl chr14:77,732,297...77,862,794
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Depdc5em1Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant1, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Depdc5em2Kyo
DEP domain containing 5, GATOR1 subcomplex subunit; TALEN induced mutant2, Kyo
IMP
RGD
PMID:26873552
RGD:11573213
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Fmr1
fragile X messenger ribonucleoprotein 1
IMP
compared to wild type controls
RGD
PMID:26166728
RGD:11080370
NCBI chr X:152,284,857...152,322,686
Ensembl chr X:147,240,301...147,278,050
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Fmr1em1Sage
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
compared to wild type controls
RGD
PMID:26166728
RGD:11080370
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Ctnnd2
catenin delta 2
IMP
RGD
PMID:32554807
RGD:407532699
NCBI chr 2:82,879,469...83,727,409
Ensembl chr 2:81,167,117...82,015,764
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Ilk
integrin-linked kinase
IMP
inhibition in the nucleus accumbens decreases dendrite density of medium spiny neurons
RGD
PMID:18602949
RGD:2301736
NCBI chr 1:169,500,716...169,506,972
Ensembl chr 1:160,088,897...160,095,140
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Shank2
SH3 and multiple ankyrin repeat domains 2
IMP
RGD
PMID:29970986
RGD:126790534
NCBI chr 1:208,575,144...209,020,300
Ensembl chr 1:199,169,429...199,589,394
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Shank2em13Sage
SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage
IMP
RGD
PMID:29970986
RGD:126790534
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Cplx1
complexin 1
IMP
RGD
PMID:31875236
RGD:127285808
NCBI chr14:1,329,073...1,360,781
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Gla
galactosidase, alpha
IMP
compared to wild type
RGD
PMID:34541380
RGD:401976419
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:34541380
RGD:401976419
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Mir195
microRNA 195
IMP
in hippocampus
RGD
PMID:32272873
RGD:45073134
NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924
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Eml1
EMAP like 1
IAGP
RGD
PMID:9236234
RGD:597538480
NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:127,284,029...127,457,246
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Eml1tish
EMAP like 1, tish mutant
IAGP
RGD
PMID:9236234
RGD:597538480
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Klf5
KLF transcription factor 5
IMP
RGD
PMID:32272873
RGD:45073134
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
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Mir195
microRNA 195
IMP
RGD
PMID:32272873
RGD:45073134
NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924
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Cacna1f
calcium voltage-gated channel subunit alpha1 F
IAGP
DNA:mutation:cds: c.2941C>T (rat)
RGD
PMID:22634626
RGD:13782386
NCBI chr X:17,539,992...17,568,308
Ensembl chr X:14,868,024...14,896,413
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Cacna1f csnb
calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant
IAGP
DNA:mutation:cds: c.2941C>T (rat)
RGD
PMID:22634626
RGD:13782386
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Gla
galactosidase, alpha
IMP
compared to wild type
RGD
PMID:29563343 PMID:34541380
RGD:150429980 , RGD:401976419
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:29563343 PMID:34541380
RGD:150429980 , RGD:401976419
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Pclo
piccolo (presynaptic cytomatrix protein)
IMP
RGD
PMID:31074746
RGD:41408338
NCBI chr 4:20,646,604...21,005,171
Ensembl chr 4:19,695,315...20,049,885
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PcloTn(sb-B-Geo)Fkh
presynaptic cytomatrix protein; sleeping beauty transposon induced mutant, Fkh
IMP
RGD
PMID:31074746
RGD:41408338
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Atm
ATM serine/threonine kinase
IMP
DNA:deletion:exon:
RGD
PMID:28007901
RGD:12879399
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
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Bace1
beta-secretase 1
IMP
RGD
PMID:28281673
RGD:13782149
NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:46,142,116...46,165,876
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Bace1em1Sage
IMP
RGD
PMID:28281673
RGD:13782149
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Cyfip1
cytoplasmic FMR1 interacting protein 1
IMP
RGD
PMID:31371763
RGD:14981598
NCBI chr 1:115,842,754...115,935,163
Ensembl chr 1:106,711,016...106,799,386
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Cyfip1em1Sage
cytoplasmic FMR1 interacting protein 1; CRISPR/Cas9 induced mutant 1, Sage
IMP
RGD
PMID:31371763
RGD:14981598
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Klf5
KLF transcription factor 5
IMP
in hippocampus
RGD
PMID:32272873
RGD:45073134
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
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Slc9a6
solute carrier family 9 member A6
IMP
RGD
PMID:34928329
RGD:151664747
NCBI chr X:139,468,045...139,524,111
Ensembl chr X:134,420,756...134,485,375
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Slc9a6 em1Moro
solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro
IMP
RGD
PMID:34928329
RGD:151664747
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Eml1
EMAP like 1
IAGP
RGD
PMID:9236234
RGD:597538480
NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:127,284,029...127,457,246
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Eml1tish
EMAP like 1, tish mutant
IAGP
RGD
PMID:9236234
RGD:597538480
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Twf1
twinfilin actin-binding protein 1
IMP
RGD
PMID:33963280
RGD:596938166
NCBI chr 7:127,595,210...127,607,821
Ensembl chr 7:125,716,015...125,727,894
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Park7
Parkinsonism associated deglycase
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Pink1
PTEN induced kinase 1
IMP
RGD
PMID:24969022
RGD:13210569
NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:150,530,523...150,542,635
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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Slc9a6
solute carrier family 9 member A6
IMP
RGD
PMID:34928329
RGD:151664747
NCBI chr X:139,468,045...139,524,111
Ensembl chr X:134,420,756...134,485,375
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Slc9a6 em1Moro
solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro
IMP
RGD
PMID:34928329
RGD:151664747
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Gla
galactosidase, alpha
IMP
compared to wild type
RGD
PMID:34541380
RGD:401976419
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to wild type
RGD
PMID:34541380
RGD:401976419
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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:23516626
RGD:11535084
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334
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Myo15a
myosin XVA
induces
IAGP
DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) compared to LEW/Ztm
RGD
PMID:21479269 PMID:21479269
RGD:150429616 , RGD:150429616
NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,278,737...45,335,340
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Myo15aci2
myosin XVA; ci2 mutant
induces
IAGP
compared to LEW/Ztm
RGD
PMID:21479269
RGD:150429616
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Pde6b
phosphodiesterase 6B
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,323,310...1,366,450
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Pde6bem1Baek
phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek
IMP
compared to wild-type
RGD
PMID:31009522
RGD:40924664
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