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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:absent Z line
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Accession:MP:0004092 term browser browse the term
Definition:missing 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: absent Z band;   absent Z disc;   absent Z disk;   absent Z lines



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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

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16756
    muscle phenotype 1954
      abnormal muscle morphology 1444
        abnormal muscle fiber morphology 589
          abnormal sarcomere morphology 112
            abnormal I band morphology 64
              abnormal Z line morphology 61
                absent Z line 6
paths to the root