|
Symbol Name ID |
Lmnb1
lamin B1 MGI:96795 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Increased CSF protein concentration |
Orthostatic hypotension |
Orthostatic hypotension due to autonomic dysfunction |
Dysphagia |
Pseudobulbar paralysis |
Autonomic erectile dysfunction |
Spasticity |
Spastic gait |
Gliosis |
Leukodystrophy |
Symmetric peripheral demyelination |
Abnormal cerebellar peduncle morphology |
Atrophy/Degeneration affecting the brainstem |
Ventriculomegaly |
Pachygyria |
Hypoplasia of the frontal lobes |
Aplasia/Hypoplasia of the corpus callosum |
Agenesis of corpus callosum |
Corpus callosum atrophy |
Hyperintensity of cerebral white matter on MRI |
Atrophy/Degeneration affecting the cerebrum |
Diffuse leukoencephalopathy |
Abnormal cerebellum morphology |
Aplasia/Hypoplasia of the cerebellum |
Atrophy of the spinal cord |
Gray matter heterotopia |
Ataxia |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Clonus |
Tremor |
Action tremor |
Intention tremor |
Upper limb postural tremor |
Head titubation |
Upper motor neuron dysfunction |
Abnormal pyramidal sign |
Babinski sign |
Tetraparesis |
Abnormal auditory evoked potentials |
Abnormality of somatosensory evoked potentials |
EEG with generalized slow activity |
Dysarthria |
Depression |
Atypical behavior |
Personality changes |
Cognitive impairment |
Dementia |
Progressive neurologic deterioration |
Intellectual disability, severe |
Hyperreflexia |
Gait disturbance |
Global developmental delay |
Pseudobulbar signs |
Distal sensory impairment |
Impaired proprioception |
Impaired distal vibration sensation |
Abnormal autonomic nervous system physiology |
Autonomic bladder dysfunction |
| Disease(s) Associated with LMNB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| adult-onset autosomal dominant demyelinating leukodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| primary autosomal recessive microcephaly |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
clonic seizures |
abnormal spike wave discharge |
abnormal neuronal migration |
abnormal neuronal precursor proliferation |
decreased midbrain size |
decreased brain size |
abnormal stratification in cerebral cortex |
abnormal phrenic nerve innervation pattern to diaphragm |
abnormal neuron morphology |
abnormal myelin sheath morphology |
axon degeneration |
abnormal oligodendrocyte physiology |
demyelination |
hypermyelination |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Lmnb1tm1.2Sgy/Lmnb1tm1.2Sgy | ||||||||||||||||||
| Lmnb1tm1Yxz/Lmnb1tm1Yxz | ||||||||||||||||||
| Lmnb1tm2Sgy/Lmnb1tm2Sgy | ||||||||||||||||||
| Tg(Lmnb1)1Yfu/0 | * | |||||||||||||||||
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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