Symbol Name ID |
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1 MGI:104820 |
Darker colors indicate more annotations |
Human Phenotypes | Amyotrophy of ankle musculature |
Intrinsic hand muscle atrophy |
Weakness of the intrinsic hand muscles |
Foot dorsiflexor weakness |
Proximal muscle weakness in lower limbs |
Limb-girdle muscular dystrophy |
Joint contracture of the hand |
Spastic paraparesis |
EMG: myopathic abnormalities |
Difficulty walking |
Abdominal wall muscle weakness |
Distal muscle weakness |
Progressive distal muscle weakness |
Progressive proximal muscle weakness |
Late-onset proximal muscle weakness |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Increased endomysial connective tissue |
Muscle fiber inclusion bodies |
Rimmed vacuoles |
Distal amyotrophy |
Fatty replacement of skeletal muscle |
Muscular dystrophy |
Myopathy |
Disease(s) Associated with HNRNPA1 | ||||||||||||||||||||||||
amyotrophic lateral sclerosis type 20 | ||||||||||||||||||||||||
distal myopathy 3 | ||||||||||||||||||||||||
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 | ||||||||||||||||||||||||
tropical spastic paraparesis |
Mouse Phenotypes | dilated cardiomyopathy |
abnormal tongue muscle morphology |
tongue muscle hypoplasia |
abnormal intercostal muscle morphology |
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Availability | Mouse Genotype | ||||
Hnrnpa1tm1.1Cyf/Hnrnpa1tm1.1Cyf |
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 05/14/2024 MGI 6.23 |
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