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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 lysosome morphology
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Accession:MP:0005058 term browser browse the term
Definition:any structural anomaly of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases
Synonyms:exact_synonym: abnormal lysosome
 xref: GO:0005764


show annotations for term's descendants           Sort by:
abnormal lysosome morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal IAGP MGI PMID:9228031 NCBI chr 2:91,033,157...91,044,443
Ensembl chr 2:91,033,230...91,044,443 		JBrowse link
G Aga aspartylglucosaminidase IAGP MGI PMID:8946839 PMID:9425233 PMID:9686358 PMID:9777961 NCBI chr 8:53,964,718...53,976,457
Ensembl chr 8:53,964,762...53,976,456 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:10381507 PMID:11058094 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Arsa arylsulfatase A IAGP MGI PMID:21965315 NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 IAGP MGI PMID:23681708 NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810 		JBrowse link
G Atg5 autophagy related 5 IAGP MGI PMID:15525940 NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287 		JBrowse link
G Atm ataxia telangiectasia mutated IAGP MGI PMID:10639172 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp13a2 ATPase type 13A2 IAGP MGI PMID:25855184 NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641 		JBrowse link
G Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1 IAGP MGI PMID:33833240 NCBI chr11:100,899,262...100,954,545
Ensembl chr11:100,900,278...100,954,545 		JBrowse link
G BC004004 cDNA sequence BC004004 IAGP MGI PMID:35820707 NCBI chr17:29,487,762...29,521,862
Ensembl chr17:29,487,762...29,533,039 		JBrowse link
G Bloc1s1 biogenesis of lysosomal organelles complex-1, subunit 1 IAGP MGI PMID:25183008 NCBI chr10:128,755,783...128,759,393
Ensembl chr10:128,753,751...128,759,904 		JBrowse link
G Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 IAGP MGI PMID:27719760 NCBI chr19:44,127,685...44,134,909
Ensembl chr19:44,127,685...44,134,885 		JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 IAGP MGI PMID:32553155 NCBI chr 6:134,616,475...134,688,147
Ensembl chr 6:134,616,473...134,688,150 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 IAGP MGI PMID:30067980 NCBI chr19:46,678,345...46,691,821
Ensembl chr19:46,678,345...46,691,821 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 IAGP MGI PMID:24820037 NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP MGI PMID:10440905 PMID:10527801 PMID:17855597 PMID:32601357 NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Coq7 demethyl-Q 7 IAGP MGI PMID:11716496 NCBI chr 7:118,108,881...118,132,529
Ensembl chr 7:118,108,882...118,132,579 		JBrowse link
G Cryba1 crystallin, beta A1 IAGP MGI PMID:24468901 PMID:26863613 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Ctsa cathepsin A IAGP MGI PMID:7590240 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G Ctsk cathepsin K IAGP MGI PMID:27777970 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Ctsl cathepsin L IAGP MGI PMID:25222295 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Fuca1 fucosidase, alpha-L- 1, tissue IAGP MGI PMID:27491075 NCBI chr 4:135,648,037...135,667,611
Ensembl chr 4:135,648,046...135,667,622 		JBrowse link
G Gaa glucosidase, alpha, acid IAGP MGI PMID:9668092 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		JBrowse link
G Glmp glycosylated lysosomal membrane protein IAGP MGI PMID:24487409 NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits IAGP MGI PMID:26857995 NCBI chr10:88,215,130...88,283,186
Ensembl chr10:88,214,994...88,283,191 		JBrowse link
G Gusb glucuronidase, beta IAGP MGI PMID:2111021 PMID:2495302 PMID:9774663 PMID:10560917 PMID:11228259 More... NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP MGI PMID:27528230 NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		JBrowse link
G Hexb hexosaminidase B IAGP MGI PMID:31547903 NCBI chr13:97,312,839...97,334,865
Ensembl chr13:97,312,839...97,334,865 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase IAGP MGI PMID:27491071 NCBI chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		JBrowse link
G Idua iduronidase, alpha-L IAGP MGI PMID:17101178 PMID:19751987 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G Kif5b kinesin family member 5B IAGP MGI PMID:9657148 NCBI chr18:6,201,005...6,241,524
Ensembl chr18:6,201,002...6,242,174 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP MGI PMID:10560917 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 IAGP MGI PMID:15121881 NCBI chr 8:13,209,161...13,225,338
Ensembl chr 8:13,209,161...13,225,338 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IAGP MGI PMID:15121881 NCBI chr  X:37,488,524...37,545,337
Ensembl chr  X:37,490,234...37,545,331 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 IAGP MGI PMID:19177150 NCBI chr 7:101,555,044...101,561,110
Ensembl chr 7:101,555,111...101,575,882 		JBrowse link
G Laptm4b lysosomal-associated protein transmembrane 4B IAGP MGI PMID:32693673 NCBI chr15:34,238,279...34,284,448
Ensembl chr15:34,238,174...34,284,448 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha IAGP MGI PMID:25915474 NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta IAGP MGI PMID:25915474 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Lyset lysosomal enzyme trafficking factor IAGP MGI PMID:36074821 NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:1113502 PMID:4697831 PMID:6170520 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 IAGP MGI PMID:10400983 PMID:16014715 NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 IAGP MGI PMID:24423645 NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		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 Ncoa7 nuclear receptor coactivator 7 IAGP MGI PMID:33340069 NCBI chr10:30,521,578...30,683,401
Ensembl chr10:30,504,995...30,679,322 		JBrowse link
G Neu1 neuraminidase 1 IAGP MGI PMID:12023988 NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 IAGP MGI PMID:17389239 NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926 		JBrowse link
G 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 		JBrowse link
G Pink1 PTEN induced putative kinase 1 IAGP MGI PMID:18560593 NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618 		JBrowse link
G Plekhm1 pleckstrin homology domain containing, family M (with RUN domain) member 1 IAGP MGI PMID:27777970 NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513 		JBrowse link
G Rab7 RAB7, member RAS oncogene family IAGP MGI PMID:37878717 NCBI chr 6:87,976,088...88,022,252
Ensembl chr 6:87,976,088...88,022,252 		JBrowse link
G Rab7b RAB7B, member RAS oncogene family IAGP MGI PMID:34494097 NCBI chr 1:131,616,412...131,646,288
Ensembl chr 1:131,616,433...131,643,177 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) IAGP MGI PMID:10561464 NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362 		JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 IAGP MGI PMID:25915474 NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791 		JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) IAGP MGI PMID:30442666 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113 		JBrowse link
G Snca synuclein, alpha IAGP MGI PMID:25855184 NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839 		JBrowse link
G Sort1 sortilin 1 IAGP MGI PMID:19732768 NCBI chr 3:108,191,272...108,268,835
Ensembl chr 3:108,191,398...108,268,827 		JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:15732085 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317 		JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated IAGP MGI PMID:26284655 NCBI chr 2:121,884,001...121,949,915
Ensembl chr 2:121,884,001...121,948,867 		JBrowse link
G Tmem106b transmembrane protein 106B IAGP MGI PMID:32160553 NCBI chr 6:13,069,758...13,089,268
Ensembl chr 6:13,069,758...13,089,268 		JBrowse link
G Tpcn2 two pore segment channel 2 IAGP MGI PMID:36641477 NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748 		JBrowse link
G Tpp1 tripeptidyl peptidase I IAGP MGI PMID:18343701 NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
G Uvrag UV radiation resistance associated gene IAGP MGI PMID:24081163 NCBI chr 7:98,535,949...98,790,373
Ensembl chr 7:98,534,228...98,790,348 		JBrowse link
G Vps35 VPS35 retromer complex component IAGP MGI PMID:26203154 NCBI chr 8:85,987,014...86,026,146
Ensembl chr 8:85,987,021...86,026,431 		JBrowse link
G 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 		JBrowse link
G Washc4 WASH complex subunit 4 IAGP MGI PMID:33749590 NCBI chr10:83,379,073...83,432,350
Ensembl chr10:83,379,616...83,432,337 		JBrowse link
G Zfyve26 zinc finger, FYVE domain containing 26 IAGP MGI PMID:24367272 NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		JBrowse link
accumulation of giant lysosomes in kidney/renal tubule cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal IAGP MGI PMID:9228031 NCBI chr 2:91,033,157...91,044,443
Ensembl chr 2:91,033,230...91,044,443 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:10381507 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 IAGP MGI PMID:19661288 NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 IAGP MGI PMID:19661288 NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Gusb glucuronidase, beta IAGP MGI PMID:12403825 NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890 		JBrowse link
G Lgmn legumain IAGP MGI PMID:12775715 NCBI chr12:102,360,341...102,405,987
Ensembl chr12:102,360,343...102,406,072 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:408 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Neu1 neuraminidase 1 IAGP MGI PMID:12023988 NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929 		JBrowse link
G Rab8a RAB8A, member RAS oncogene family IAGP MGI PMID:17597763 NCBI chr 8:72,915,044...72,935,210
Ensembl chr 8:72,915,044...72,937,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16762
    cellular phenotype 5427
      abnormal cell morphology 1972
        abnormal intracellular organelle morphology 667
          abnormal vacuole morphology 74
            abnormal lysosome morphology 69
              accumulation of giant lysosomes in kidney/renal tubule cells 9
paths to the root