absent z lines Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description 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 (Mammalian Phenotype Ontology, MP_0004092)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004092
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Genes

3 gene mutations causing the absent z lines phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DMPK dystrophia myotonica-protein kinase
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1