|
Symbol Name ID |
Lmna
lamin A MGI:96794 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Neck joint contracture |
Finger joint contracture |
Achilles tendon contracture |
Hip contracture |
Peroneal muscle atrophy |
Toe extensor amyotrophy |
Proximal lower limb amyotrophy |
Distal lower limb muscle weakness |
Peroneal muscle weakness |
Hand muscle atrophy |
Hand muscle weakness |
Proximal upper limb amyotrophy |
Scapular winging |
Proximal muscle weakness in upper limbs |
Distal upper limb amyotrophy |
Limb muscle weakness |
Foot dorsiflexor weakness |
Proximal muscle weakness in lower limbs |
Upper limb muscle weakness |
Limb-girdle muscular dystrophy |
Shoulder girdle muscle atrophy |
Limb-girdle muscle weakness |
Elbow flexion contracture |
Distal upper limb muscle weakness |
Joint contracture |
Flexion contracture |
Decreased cervical spine flexion due to contractures of posterior cervical muscles |
Camptodactyly |
Hamstring contractures |
Elbow contracture |
Increased intramuscular fat |
Abnormality of the musculature |
Hypotonia |
EMG abnormality |
EMG: axonal abnormality |
EMG: myopathic abnormalities |
Muscle weakness |
Axial muscle weakness |
Distal muscle weakness |
Neck muscle weakness |
Poor head control |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Myotonia |
Pelvic girdle muscle atrophy |
Absent muscle fiber emerin |
Abnormality of skeletal muscle fiber size |
Type 1 muscle fiber atrophy |
Rimmed vacuoles |
Skeletal muscle atrophy |
Distal amyotrophy |
Distal lower limb amyotrophy |
Generalized amyotrophy |
Proximal amyotrophy |
Scapuloperoneal amyotrophy |
Skeletal muscle hypertrophy |
Calcinosis |
Muscular dystrophy |
Myopathy |
| Disease(s) Associated with LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive Emery-Dreifuss muscular dystrophy 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 2B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| congenital muscular dystrophy due to LMNA mutation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| dilated cardiomyopathy 1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Emery-Dreifuss muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| familial partial lipodystrophy type 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| mandibuloacral dysplasia type A lipodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Werner syndrome |
| Mouse Phenotypes | muscle phenotype |
abnormal aorta smooth muscle morphology |
vascular smooth muscle hypoplasia |
abnormal myocardial fiber morphology |
decreased myocardial fiber number |
decreased myocardial fiber size |
myocardial fiber degeneration |
myocardium necrosis |
thin myocardium |
cardiac muscle degeneration |
dilated cardiomyopathy |
decreased cardiac muscle contractility |
decreased ventricle muscle contractility |
abnormal vascular smooth muscle physiology |
abnormal vasodilation |
abnormal esophageal smooth muscle morphology |
esophageal achalasia |
decreased quadriceps weight |
abnormal gastrocnemius morphology |
abnormal soleus morphology |
abnormal tibialis anterior morphology |
abnormal muscle development |
abnormal sarcomere morphology |
decreased skeletal muscle fiber size |
decreased skeletal muscle fiber diameter |
centrally nucleated skeletal muscle fibers |
abnormal hypaxial muscle morphology |
abnormal diaphragm morphology |
skeletal muscle degeneration |
skeletal muscle fibrosis |
dystrophic muscle |
muscle degeneration |
muscular atrophy |
abnormal muscle tone |
muscle weakness |
progressive muscle weakness |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||
| LmnaGt(S7-1F1)Sor/LmnaGt(S7-1F1)Sor | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.1Bliu/Lmnatm1.1Bliu | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.1Otin/Lmnatm1.1Otin | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.1Vde/Lmnatm1.1Vde | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.2Yxz/Lmnatm1.2Yxz | |||||||||||||||||||||||||||||||||||||
| Lmnatm1Gbon/Lmnatm1Gbon | |||||||||||||||||||||||||||||||||||||
| Lmnatm1Stw/Lmnatm1Stw | |||||||||||||||||||||||||||||||||||||
| Lmnatm2.1Gbon/Lmnatm2.1Gbon | |||||||||||||||||||||||||||||||||||||
| Lmnatm2Stw/Lmnatm2Stw | |||||||||||||||||||||||||||||||||||||
| Lmnatm3Stw/Lmnatm3Stw | |||||||||||||||||||||||||||||||||||||
| Lmnatm5Lgf/Lmnatm5Lgf | |||||||||||||||||||||||||||||||||||||
| Lmnatm8Lgf/Lmnatm8Lgf | |||||||||||||||||||||||||||||||||||||
| Lmnatm12Lgf/Lmnatm12Lgf | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.1Bliu/Lmna+ | |||||||||||||||||||||||||||||||||||||
| Lmnatm1.1Otin/Lmna+ | |||||||||||||||||||||||||||||||||||||
| Lmnatm2.1Gbon/Lmna+ | * | ||||||||||||||||||||||||||||||||||||
| Lmnatm11Lgf/Lmna+ | |||||||||||||||||||||||||||||||||||||
| Lmnatm4Stw/Lmnatm4Stw Tg(Zp3-cre)93Knw/0 (conditional) |
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| Lmnatm1Bliu/Lmna+ Tg(Tek-cre)1Ywa/0 (conditional) |
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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 04/16/2024 MGI 6.23 |
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