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 endoplasmic reticulum morphology
Accession: MP:0009378
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Definition: any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells
Comment: The endoplasmic reticulum membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
Synonyms: exact_synonym: abnormal ER morphology
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
IAGP
MGI
PMID:23954234
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Aqp11
aquaporin 11
IAGP
MGI
PMID:23275615
NCBI chr 7:97,375,586...97,387,454
Ensembl chr 7:97,373,213...97,387,496
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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
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Atl1
atlastin GTPase 1
IAGP
MGI
PMID:35348668
NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191
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Atp2c1
ATPase, Ca++-sequestering
IAGP
MGI
PMID:17597066
NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518
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Ccpg1
cell cycle progression 1
IAGP
MGI
PMID:29290589
NCBI chr 9:72,892,692...72,923,622
Ensembl chr 9:72,892,711...72,923,622
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Cd19
CD19 antigen
IAGP
MGI
PMID:25238757
NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
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Cert1
ceramide transporter 1
IAGP
MGI
PMID:19139267
NCBI chr13:96,679,243...96,782,362
Ensembl chr13:96,679,126...96,776,675
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Chmp2b
charged multivesicular body protein 2B
IAGP
MGI
PMID:34130995
NCBI chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612
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Clec16a
C-type lectin domain family 16, member A
IAGP
MGI
PMID:24949970
NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
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Col8a2
collagen, type VIII, alpha 2
IAGP
MGI
PMID:22002996 PMID:23422828
NCBI chr 4:126,180,587...126,208,123
Ensembl chr 4:126,180,586...126,208,123
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Dnajb9
DnaJ heat shock protein family (Hsp40) member B9
IAGP
MGI
PMID:24336520
NCBI chr12:44,252,680...44,256,851
Ensembl chr12:44,252,342...44,257,109
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Ell2
elongation factor for RNA polymerase II 2
IAGP
MGI
PMID:25238757
NCBI chr13:75,855,603...75,920,480
Ensembl chr13:75,854,876...75,920,483
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Fkbp10
FK506 binding protein 10
IAGP
MGI
PMID:24777781
NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650
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Gclc
glutamate-cysteine ligase, catalytic subunit
IAGP
MGI
PMID:17464988
NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767
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Gdap1
ganglioside-induced differentiation-associated-protein 1
IAGP
MGI
PMID:25860513
NCBI chr 1:17,202,028...17,234,495
Ensembl chr 1:17,215,586...17,234,495
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Gfer
growth factor, augmenter of liver regeneration
IAGP
MGI
PMID:25448926
NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130
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Grn
granulin
IAGP
MGI
PMID:34130995
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:31833196
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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Lman1
lectin, mannose-binding, 1
IAGP
MGI
PMID:21795745
NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
IAGP
MGI
PMID:25271328
NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790
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Mfn2
mitofusin 2
IAGP
MGI
PMID:33674260
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Muc2
mucin 2
IAGP
MGI
PMID:18318598
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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P4ha1
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide
IAGP
MGI
PMID:17135260
NCBI chr10:59,159,019...59,209,126
Ensembl chr10:59,159,118...59,209,126
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Pex5
peroxisomal biogenesis factor 5
IAGP
MGI
PMID:15732085
NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026
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Plp2
proteolipid protein 2
IAGP
MGI
PMID:26512060
NCBI chr X:7,534,180...7,537,629
Ensembl chr X:7,534,180...7,537,629
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Reep1
receptor accessory protein 1
IAGP
MGI
PMID:27638887 PMID:35348668
NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
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Sel1l
sel-1 suppressor of lin-12-like (C. elegans)
IAGP
MGI
PMID:24453213
NCBI chr12:91,772,817...91,815,931
Ensembl chr12:91,772,817...91,815,931
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Sidt2
SID1 transmembrane family, member 2
IAGP
MGI
PMID:27233614
NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556
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Speer6-ps1
spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1
IAGP
MGI
PMID:15732085 PMID:17464988 PMID:23275615 PMID:23299886 PMID:25448926
NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317 Ensembl chr13:3,236,206...3,239,317
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Srsf3
serine and arginine-rich splicing factor 3
IAGP
MGI
PMID:23299886
NCBI chr17:29,251,634...29,262,346
Ensembl chr17:29,251,602...29,262,347
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Tardbp
TAR DNA binding protein
IAGP
MGI
PMID:34130995
NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476
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Tlr2
toll-like receptor 2
IAGP
MGI
PMID:15546996
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Trip11
thyroid hormone receptor interactor 11
IAGP
MGI
PMID:20089971 PMID:29180569
NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
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Umod
uromodulin
IAGP
MGI
PMID:23748428
NCBI chr 7:119,061,931...119,078,485
Ensembl chr 7:119,061,934...119,078,505
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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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Vps54
VPS54 GARP complex subunit
IAGP
MGI
PMID:1117319
NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136
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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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Xbp1
X-box binding protein 1
IAGP
MGI
PMID:18775308
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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