|
Symbol Name ID |
Jph1
junctophilin 1 MGI:1891495 |
| Darker colors indicate more annotations |
| Human Phenotypes | Distal lower limb muscle weakness |
Peroneal muscle weakness |
Intrinsic hand muscle atrophy |
Hand muscle weakness |
Proximal muscle weakness in upper limbs |
Proximal muscle weakness in lower limbs |
Quadriceps muscle weakness |
Distal upper limb muscle weakness |
Flexion contracture |
Frequent falls |
Distal muscle weakness |
Proximal muscle weakness |
Skeletal muscle atrophy |
Distal amyotrophy |
| Disease(s) Associated with JPH1 | ||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2K |
| Mouse Phenotypes | abnormal sarcoplasmic reticulum morphology |
abnormal skeletal muscle fiber triad morphology |
impaired skeletal muscle contractility |
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| Availability | Mouse Genotype | |||
| Jph1tm1Hta/Jph1tm1Hta | ||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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