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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 Z line morphology
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Accession:MP:0004091 term browser browse the term
Definition:any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
Synonyms:exact_synonym: abnormal Z band;   abnormal Z disk;   abnormal intermediate disk
 broad_synonym: abnormal Z disc;   abnormal Z line;   abnormal Z lines;   abnormal intermediate disc


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abnormal Z line morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor IAGP MGI PMID:16260633 PMID:17190866 NCBI chr19:31,846,156...31,929,765
Ensembl chr19:31,846,164...31,926,395 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle IAGP MGI PMID:21303860 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 IAGP MGI PMID:16950128 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Actn2 actinin alpha 2 IAGP MGI PMID:36899856 NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Bag3 BCL2-associated athanogene 3 IAGP MGI PMID:16936253 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		JBrowse link
G Bcar1 breast cancer anti-estrogen resistance 1 IAGP MGI PMID:9697697 NCBI chr 8:112,437,106...112,470,481
Ensembl chr 8:112,437,106...112,470,441 		JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit IAGP MGI PMID:5041196 PMID:8143864 NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560 		JBrowse link
G Calr calreticulin IAGP MGI PMID:17112388 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Casz1 castor zinc finger 1 IAGP MGI PMID:25190801 NCBI chr 4:148,888,823...149,039,350
Ensembl chr 4:148,888,886...149,039,346 		JBrowse link
G Cfl2 cofilin 2, muscle IAGP MGI PMID:22343409 NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 IAGP MGI PMID:37254794 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		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 Des desmin IAGP MGI PMID:25394388 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dsp desmoplakin IAGP MGI PMID:24108106 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Dst dystonin IAGP MGI PMID:10357897 NCBI chr 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor IAGP MGI PMID:23479740 NCBI chr18:77,981,618...78,080,539
Ensembl chr18:77,981,680...78,078,228 		JBrowse link
G Fis1 fission, mitochondrial 1 IAGP MGI PMID:31526891 NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088 		JBrowse link
G Flnc filamin C, gamma IAGP MGI PMID:26472074 NCBI chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		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 Gmppa GDP-mannose pyrophosphorylase A IAGP MGI PMID:33755596 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823 		JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 IAGP MGI PMID:23288164 NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797 		JBrowse link
G Hspb7 heat shock protein family, member 7 (cardiovascular) IAGP MGI PMID:26929074 PMID:29078393 NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622 		JBrowse link
G Hspb8 heat shock protein 8 IAGP MGI PMID:28780615 NCBI chr 5:116,546,550...116,560,923
Ensembl chr 5:116,546,550...116,560,923 		JBrowse link
G Kalrn kalirin, RhoGEF kinase IAGP MGI PMID:23116210 NCBI chr16:33,789,443...34,393,647
Ensembl chr16:33,789,443...34,393,902 		JBrowse link
G Klhl31 kelch-like 31 IAGP MGI PMID:28872460 NCBI chr 9:77,544,014...77,567,407
Ensembl chr 9:77,543,782...77,567,409 		JBrowse link
G Klhl40 kelch-like 40 IAGP MGI PMID:24960163 NCBI chr 9:121,606,673...121,612,885
Ensembl chr 9:121,606,673...121,612,884 		JBrowse link
G Ldb3 LIM domain binding 3 IAGP MGI PMID:21303826 NCBI chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G Lmod2 leiomodin 2 (cardiac) IAGP MGI PMID:26487682 PMID:27274810 NCBI chr 6:24,597,770...24,605,413
Ensembl chr 6:24,597,761...24,605,413 		JBrowse link
G Lmod3 leiomodin 3 (fetal) IAGP MGI PMID:25774500 PMID:26035871 NCBI chr 6:97,215,491...97,230,137
Ensembl chr 6:97,215,495...97,229,720 		JBrowse link
G Med1 mediator complex subunit 1 IAGP MGI PMID:27548259 NCBI chr11:98,042,980...98,084,121
Ensembl chr11:98,042,980...98,084,119 		JBrowse link
G Med30 mediator complex subunit 30 IEA MGI NCBI chr15:52,575,841...52,593,827
Ensembl chr15:52,575,804...52,593,960 		JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 IAGP MGI PMID:23109424 NCBI chr  X:70,254,373...70,359,019
Ensembl chr  X:70,254,373...70,359,297 		JBrowse link
G Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow IAGP MGI PMID:22426213 PMID:24108106 NCBI chr 5:122,230,787...122,251,536
Ensembl chr 5:122,239,014...122,251,535 		JBrowse link
G Myoz2 myozenin 2 IAGP MGI PMID:22987565 NCBI chr 3:122,799,855...122,828,649
Ensembl chr 3:122,799,855...122,828,664 		JBrowse link
G Mypn myopalladin IAGP MGI PMID:28017374 NCBI chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 IAGP MGI PMID:24589777 NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034 		JBrowse link
G Neb nebulin IAGP MGI PMID:16769824 PMID:23715096 PMID:26123491 NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486 		JBrowse link
G Pdlim5 PDZ and LIM domain 5 IAGP MGI PMID:20538684 NCBI chr 3:141,945,346...142,101,480
Ensembl chr 3:141,945,351...142,101,454 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 IAGP MGI PMID:12970179 NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma IAGP MGI PMID:24425002 NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496 		JBrowse link
G Rbm24 RNA binding motif protein 24 IAGP MGI PMID:30267374 NCBI chr13:46,571,664...46,584,575
Ensembl chr13:46,571,910...46,584,571 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle IAGP MGI PMID:19959667 PMID:25564733 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 IAGP MGI PMID:29183906 NCBI chr 5:24,797,620...24,829,649
Ensembl chr 5:24,795,816...24,829,409 		JBrowse link
G Srf serum response factor IAGP MGI PMID:16260633 NCBI chr17:46,857,764...46,869,194
Ensembl chr17:46,859,255...46,867,101 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 IAGP MGI PMID:23626854 NCBI chr10:127,337,505...127,344,692
Ensembl chr10:127,337,555...127,344,692 		JBrowse link
G Tln1 talin 1 IAGP MGI PMID:19793892 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691 		JBrowse link
G Tln2 talin 2 IAGP MGI PMID:19793892 NCBI chr 9:67,124,371...67,541,357
Ensembl chr 9:67,124,369...67,466,985 		JBrowse link
G Trim55 tripartite motif-containing 55 IAGP MGI PMID:18157088 PMID:23512667 NCBI chr 3:19,698,591...19,746,748
Ensembl chr 3:19,698,638...19,746,585 		JBrowse link
G Trim63 tripartite motif-containing 63 IAGP MGI PMID:18157088 PMID:23512667 NCBI chr 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940 		JBrowse link
absent Z line term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam1 dishevelled associated activator of morphogenesis 1 IAGP MGI PMID:26526197 NCBI chr12:71,877,834...72,039,150
Ensembl chr12:71,877,852...72,039,107 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 IAGP MGI PMID:26526197 NCBI chr17:49,763,050...49,871,517
Ensembl chr17:49,763,050...49,871,371 		JBrowse link
G Dmpk dystrophia myotonica-protein kinase IAGP MGI PMID:8673132 NCBI chr 7:18,817,571...18,827,746
Ensembl chr 7:18,817,774...18,827,746 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) IAGP MGI PMID:19498443 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Nkx2-5 NK2 homeobox 5 IAGP MGI PMID:26526197 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Slc8a1 solute carrier family 8 (sodium/calcium exchanger), member 1 IAGP MGI PMID:12781968 NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806 		JBrowse link
diffuse Z line term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor IAGP MGI PMID:21245375 PMID:35907876 NCBI chr19:31,846,156...31,929,765
Ensembl chr19:31,846,164...31,926,395 		JBrowse link
G Bin1 bridging integrator 1 IAGP MGI PMID:12773571 NCBI chr18:32,509,671...32,568,793
Ensembl chr18:32,510,283...32,568,790 		JBrowse link
G Clk4 CDC like kinase 4 IAGP MGI PMID:35907876 NCBI chr11:51,153,941...51,172,597
Ensembl chr11:51,152,557...51,172,593 		JBrowse link
G Daam1 dishevelled associated activator of morphogenesis 1 IAGP MGI PMID:26526197 NCBI chr12:71,877,834...72,039,150
Ensembl chr12:71,877,852...72,039,107 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 IAGP MGI PMID:26526197 NCBI chr17:49,763,050...49,871,517
Ensembl chr17:49,763,050...49,871,371 		JBrowse link
G Hdac2 histone deacetylase 2 IAGP MGI PMID:17322895 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Jup junction plakoglobin IAGP MGI PMID:21245375 NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
G Nkx2-5 NK2 homeobox 5 IAGP MGI PMID:26526197 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G R3hdml R3H domain containing-like IAGP MGI PMID:31524320 NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532 		JBrowse link
G Xirp1 xin actin-binding repeat containing 1 IAGP MGI PMID:17766470 NCBI chr 9:119,842,821...119,852,660
Ensembl chr 9:119,842,821...119,852,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16738
    muscle phenotype 1953
      abnormal muscle morphology 1443
        abnormal muscle fiber morphology 588
          abnormal sarcomere morphology 112
            abnormal I band morphology 64
              abnormal Z line morphology 61
                absent Z line 6
                diffuse Z line 10
paths to the root