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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 basement membrane morphology
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Accession:MP:0004272 term browser browse the term
Definition:anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis
Comment:Note: Basal lamina and lamina reticularis (or of two basal laminae) compose the basement membrane. Thus, in strict sense, the term basement membrane is different from and should not be confused with basal lamina.
Synonyms:exact_synonym: abnormal basement lamina morphology
 narrow_synonym: basement membrane dysplasia


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abnormal basement membrane morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 IAGP MGI PMID:19515912 NCBI chr 8:95,701,321...95,740,836
Ensembl chr 8:95,701,379...95,740,845 		JBrowse link
G Adtrp androgen dependent TFPI regulating protein IAGP MGI PMID:30571485 NCBI chr13:41,916,621...42,001,092
Ensembl chr13:41,916,624...42,001,160 		JBrowse link
G Ahi1 Abelson helper integration site 1 IAGP MGI PMID:19718039 NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 IAGP MGI PMID:23217742 NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G Cav2 caveolin 2 IAGP MGI PMID:11884617 NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114 		JBrowse link
G Col13a1 collagen, type XIII, alpha 1 IAGP MGI PMID:11583983 NCBI chr10:61,674,013...61,814,985
Ensembl chr10:61,674,015...61,814,887 		JBrowse link
G Col17a1 collagen, type XVII, alpha 1 IAGP MGI PMID:25310407 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 IAGP MGI PMID:11927538 PMID:15254016 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 IAGP MGI PMID:16598045 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A IAGP MGI PMID:23217742 NCBI chr12:36,430,334...36,739,502
Ensembl chr12:36,431,449...36,739,502 		JBrowse link
G Dag1 dystroglycan 1 IAGP MGI PMID:23217742 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Edil3 EGF-like repeats and discoidin I-like domains 3 IAGP MGI PMID:23217742 NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342 		JBrowse link
G Emx1 empty spiracles homeobox 1 IAGP MGI PMID:21452199 NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 IAGP MGI PMID:19056886 NCBI chr 2:140,500,118...140,513,396
Ensembl chr 2:140,492,834...140,513,389 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:17715063 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 IAGP MGI PMID:12766769 PMID:15623520 NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:24132234 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) IAGP MGI PMID:16873583 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Ilk integrin linked kinase IAGP MGI PMID:12670870 NCBI chr 7:105,385,797...105,392,132
Ensembl chr 7:105,385,799...105,392,132 		JBrowse link
G Itga6 integrin alpha 6 IAGP MGI PMID:16873583 NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760 		JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) IAGP MGI PMID:10974002 NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681 		JBrowse link
G Kdr kinase insert domain protein receptor IAGP MGI PMID:19668192 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Lama2 laminin, alpha 2 IAGP MGI PMID:894325 PMID:1161034 PMID:16127160 NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G Lamc1 laminin, gamma 1 IAGP MGI PMID:12015298 PMID:12122064 PMID:16873583 PMID:22767514 NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IAGP MGI PMID:20727881 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Nid1 nidogen 1 IAGP MGI PMID:12480912 NCBI chr13:13,612,252...13,686,849
Ensembl chr13:13,612,136...13,686,854 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide IAGP MGI PMID:23633653 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase IAGP MGI PMID:23454088 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 IAGP MGI PMID:21452199 NCBI chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G Ric8a RIC8 guanine nucleotide exchange factor A IAGP MGI PMID:23100420 NCBI chr 7:140,437,310...140,443,644
Ensembl chr 7:140,436,870...140,444,285 		JBrowse link
G Rtl1 retrotransposon Gaglike 1 IAGP MGI PMID:18176565 NCBI chr12:109,531,141...109,570,852
Ensembl chr12:109,555,627...109,566,764 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 IAGP MGI PMID:11391004 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
G Spint1 serine protease inhibitor, Kunitz type 1 IAGP MGI PMID:17174946 NCBI chr 2:119,067,841...119,079,995
Ensembl chr 2:119,067,843...119,080,008 		JBrowse link
abnormal basal lamina morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crim1 cysteine rich transmembrane BMP regulator 1 IAGP MGI PMID:19776720 NCBI chr17:78,507,602...78,684,021
Ensembl chr17:78,507,677...78,684,021 		JBrowse link
G Gas2 growth arrest specific 2 IAGP MGI PMID:27734842 NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723 		JBrowse link
G Lama2 laminin, alpha 2 IAGP MGI PMID:9326364 PMID:15699217 PMID:18430779 NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G Lama4 laminin, alpha 4 IAGP MGI PMID:15699217 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Lamc2 laminin, gamma 2 IAGP MGI PMID:20336083 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 IAGP MGI PMID:24256719 NCBI chr 9:121,810,675...121,825,116
Ensembl chr 9:121,810,672...121,826,176 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs IAGP MGI PMID:11747814 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806 		JBrowse link
abnormal cochlear basement membrane morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen, type IV, alpha 3 IAGP MGI PMID:9682811 PMID:15855646 NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:23251483 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
impaired basement membrane formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin IAGP MGI PMID:11602502 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027 		JBrowse link
G Ctnnal1 catenin alpha like 1 IAGP MGI PMID:32258033 NCBI chr 4:56,810,935...56,865,370
Ensembl chr 4:56,810,935...56,865,188 		JBrowse link
G Fktn fukutin IAGP MGI PMID:15837576 NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 IAGP MGI PMID:21350012 NCBI chr 2:140,500,118...140,513,396
Ensembl chr 2:140,492,834...140,513,389 		JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) IAGP MGI PMID:10579729 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Itgb8 integrin beta 8 IAGP MGI PMID:12050137 NCBI chr12:119,121,757...119,202,891
Ensembl chr12:119,121,757...119,202,537 		JBrowse link
G Lama4 laminin, alpha 4 IAGP MGI PMID:11809810 NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184 		JBrowse link
G Lama5 laminin, alpha 5 IAGP MGI PMID:12051813 NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652 		JBrowse link
G Notch1 notch 1 IAGP MGI PMID:26563570 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Notch3 notch 3 IAGP MGI PMID:26563570 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G 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 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 IAGP MGI PMID:16467571 NCBI chr 5:137,015,873...137,025,500
Ensembl chr 5:137,015,873...137,025,502 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase IAGP MGI PMID:23454088 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17109
    cellular phenotype 5488
      abnormal extracellular matrix morphology 150
        abnormal basement membrane morphology 50
          abnormal basal lamina morphology 7
          abnormal cochlear basement membrane morphology 2
          impaired basement membrane formation 13
paths to the root