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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 alveolar lamellar body morphology
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Accession:MP:0010813 term browser browse the term
Definition:any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant


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abnormal alveolar lamellar body morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP-binding cassette, sub-family A member 3 IAGP MGI PMID:17267394 PMID:17577581 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Arrb1 arrestin, beta 1 IAGP MGI PMID:20060823 NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978 		JBrowse link
G Arrb2 arrestin, beta 2 IAGP MGI PMID:20060823 NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654 		JBrowse link
G Atg101 autophagy related 101 IAGP MGI PMID:33296658 NCBI chr15:101,182,182...101,188,855
Ensembl chr15:101,182,153...101,188,826 		JBrowse link
G Emb embigin IAGP MGI PMID:38318368 NCBI chr13:117,357,109...117,410,951
Ensembl chr13:117,345,072...117,410,951 		JBrowse link
G Epas1 endothelial PAS domain protein 1 IAGP MGI PMID:12053176 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Hspa5 heat shock protein 5 IAGP MGI PMID:17464327 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 IAGP MGI PMID:34161347 NCBI chr16:19,472,131...19,525,115
Ensembl chr16:19,472,128...19,525,125 		JBrowse link
G Mcrip1 MAPK regulated corepressor interacting protein 1 IAGP MGI PMID:31240265 NCBI chr11:120,433,714...120,440,553
Ensembl chr11:120,433,714...120,440,553 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 IAGP MGI PMID:23843985 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 IAGP MGI PMID:27335465 NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 IAGP MGI PMID:27335465 NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:33296658 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Tmem38b transmembrane protein 38B IAGP MGI PMID:19515693 NCBI chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 IAGP MGI PMID:31562139 NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430 		JBrowse link
absent alveolar lamellar bodies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP-binding cassette, sub-family A member 12 IAGP MGI PMID:18632686 NCBI chr 1:71,282,249...71,454,069
Ensembl chr 1:71,281,435...71,454,069 		JBrowse link
G Abca3 ATP-binding cassette, sub-family A member 3 IAGP MGI PMID:17142808 PMID:17267394 PMID:17540762 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha IAGP MGI PMID:16428462 NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:18358466 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Foxa2 forkhead box A2 IAGP MGI PMID:15452354 NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889 		JBrowse link
G Gata6 GATA binding protein 6 IAGP MGI PMID:17164424 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IAGP MGI PMID:12439781 NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 IAGP MGI PMID:18599506 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Nkx2-1 NK2 homeobox 1 IAGP MGI PMID:17164424 NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell IAGP MGI PMID:15016731 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Sftpb surfactant associated protein B IAGP MGI PMID:7644495 NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354 		JBrowse link
decreased alveolar lamellar body number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP-binding cassette, sub-family A member 3 IAGP MGI PMID:17540762 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Atp23 ATP23 metallopeptidase and ATP synthase assembly factor homolog IAGP MGI PMID:35682694 NCBI chr10:126,703,698...126,737,893
Ensembl chr10:126,704,296...126,737,224 		JBrowse link
G Egfr epidermal growth factor receptor IAGP MGI PMID:9205141 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Fstl1 follistatin-like 1 IAGP MGI PMID:21482757 NCBI chr16:37,597,417...37,656,878
Ensembl chr16:37,597,235...37,656,876 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IAGP MGI PMID:12439781 NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383 		JBrowse link
G Lhx4 LIM homeobox protein 4 IAGP MGI PMID:7913017 PMID:12183375 NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430 		JBrowse link
G Mcrip1 MAPK regulated corepressor interacting protein 1 IAGP MGI PMID:31240265 NCBI chr11:120,433,714...120,440,553
Ensembl chr11:120,433,714...120,440,553 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:10664446 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha isoform IAGP MGI PMID:17130238 NCBI chr16:32,249,739...32,293,883
Ensembl chr16:32,249,739...32,293,888 		JBrowse link
G Pten phosphatase and tensin homolog IAGP MGI PMID:17909629 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Pthlh parathyroid hormone-like peptide IAGP MGI PMID:15162506 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:33296658 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Rcn3 reticulocalbin 3, EF-hand calcium binding domain IAGP MGI PMID:26252542 NCBI chr 7:44,732,338...44,741,746
Ensembl chr 7:44,732,337...44,741,645 		JBrowse link
G Tmem38b transmembrane protein 38B IAGP MGI PMID:19515693 NCBI chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019 		JBrowse link
enlarged alveolar lamellar bodies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:12777251 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:12777251 PMID:15743322 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:15743322 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 IAGP MGI PMID:23843985 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Rab32 RAB32, member RAS oncogene family IAGP MGI PMID:31399401 NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:18832574 PMID:31399401 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Sftpd surfactant associated protein D IAGP MGI PMID:9751757 PMID:15310555 NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106 		JBrowse link
increased alveolar lamellar body number term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrf5 adhesion G protein-coupled receptor F5 IAGP MGI PMID:23684610 NCBI chr17:43,671,225...43,770,448
Ensembl chr17:43,671,342...43,770,448 		JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist IAGP MGI PMID:21049041 NCBI chr15:79,543,437...79,551,861
Ensembl chr15:79,543,400...79,551,861 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 IAGP MGI PMID:23843985 NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP MGI PMID:18832574 NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780 		JBrowse link
G Sftpc surfactant associated protein C IAGP MGI PMID:12519727 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
small alveolar lamellar bodies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg101 autophagy related 101 IAGP MGI PMID:33296658 NCBI chr15:101,182,182...101,188,855
Ensembl chr15:101,182,153...101,188,826 		JBrowse link
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:18213577 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Foxm1 forkhead box M1 IAGP MGI PMID:19033457 NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109 		JBrowse link
G Gyg1 glycogenin 1 IAGP MGI PMID:33219378 NCBI chr 3:20,176,248...20,209,228
Ensembl chr 3:20,176,248...20,209,481 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IAGP MGI PMID:12439781 NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383 		JBrowse link
G Mcrip1 MAPK regulated corepressor interacting protein 1 IAGP MGI PMID:31240265 NCBI chr11:120,433,714...120,440,553
Ensembl chr11:120,433,714...120,440,553 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 IAGP MGI PMID:23843985 NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926 		JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 IAGP MGI PMID:33296658 NCBI chr 1:6,284,858...6,346,599
Ensembl chr 1:6,276,421...6,346,872 		JBrowse link
G Tmem38b transmembrane protein 38B IAGP MGI PMID:19515693 NCBI chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16963
    respiratory system phenotype 1866
      abnormal respiratory system morphology 1287
        abnormal lung morphology 839
          abnormal lung epithelium morphology 161
            abnormal pulmonary alveolus epithelium morphology 100
              abnormal pulmonary alveolus epithelial cell morphology 96
                abnormal type II pneumocyte morphology 82
                  abnormal alveolar lamellar body morphology 47
                    absent alveolar lamellar bodies 11
                    decreased alveolar lamellar body number 14
                    enlarged alveolar lamellar bodies 7
                    increased alveolar lamellar body number 5
                    small alveolar lamellar bodies 9
Path 2
Term Annotations click to browse term
  mammalian phenotype 16963
    respiratory system phenotype 1866
      abnormal respiratory system morphology 1287
        abnormal lung morphology 839
          abnormal pulmonary alveolar system morphology 378
            abnormal pulmonary acinus morphology 364
              abnormal pulmonary alveolus morphology 325
                abnormal pulmonary alveolus epithelium morphology 100
                  abnormal pulmonary alveolus epithelial cell morphology 96
                    abnormal type II pneumocyte morphology 82
                      abnormal alveolar lamellar body morphology 47
                        absent alveolar lamellar bodies 11
                        decreased alveolar lamellar body number 14
                        enlarged alveolar lamellar bodies 7
                        increased alveolar lamellar body number 5
                        small alveolar lamellar bodies 9
paths to the root