| Gene ID | Entry | Entry Name | Protein Name | Type | Information | 57339 | Q9ET80 | JPH1_MOUSE | Junctophilin-1 (JP-1) (Junctophilin type 1) | DISRUPTION PHENOTYPE | Mice are unable to suckle probably due to defective E-C coupling in jaw muscles, and die shortly after birth. In skeletal muscles, triad junctions are reduced in number. Mutant mice developed less contractile force and abnormal sensitivities to extracellular Ca(2+) were observed. Sarcoplasmic reticulum is often structurally abnormal. {ECO:0000269|PubMed:11535622, ECO:0000269|PubMed:12135771}. |
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