|
Symbol Name ID |
Bicd2
BICD cargo adaptor 2 MGI:1924145 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Subdural hemorrhage |
Hyporeflexia of lower limbs |
Decreased Achilles reflex |
Decreased patellar reflex |
Lower limb spasticity |
Bulbar palsy |
Lateral ventricle dilatation |
Ventriculomegaly |
Perisylvian polymicrogyria |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Cerebellar vermis hypoplasia |
Cerebellar hypoplasia |
Extra-axial cerebrospinal fluid accumulation |
Spina bifida occulta |
Fasciculations |
Babinski sign |
Intellectual disability |
Obstructive sleep apnea |
Hyperreflexia |
Areflexia |
Broad-based gait |
Steppage gait |
Tip-toe gait |
Waddling gait |
Motor delay |
| Disease(s) Associated with BICD2 | ||||||||||||||||||||||||||
| spinal muscular atrophy with lower extremity predominant 2A | ||||||||||||||||||||||||||
| spinal muscular atrophy with lower extremity predominant 2B |
| Mouse Phenotypes | nervous system phenotype |
abnormal neuronal migration |
abnormal cerebellar granule cell migration |
hydrocephaly |
cerebral aqueductal stenosis |
abnormal brain ependyma morphology |
enlarged lateral ventricles |
decreased corpus callosum size |
decreased brain external capsule size |
abnormal cerebellum white matter morphology |
striatum atrophy |
abnormal hippocampus layer morphology |
abnormal hippocampus pyramidal cell layer |
hippocampus atrophy |
abnormal stratification in cerebral cortex |
thin cerebral cortex |
abnormal septum pellucidum morphology |
forebrain atrophy |
abnormal cerebellar layer morphology |
abnormal cerebellar Purkinje cell layer |
abnormal Purkinje cell dendrite morphology |
abnormal cerebellar Golgi cell morphology |
absent cerebellar granule layer |
abnormal cerebellar molecular layer |
small cerebellum |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||
| Bicd2tm1.1Hgrd/Bicd2tm1.1Hgrd | ||||||||||||||||||||||||||
| Bicd2tm1Hgrd/Bicd2tm1Hgrd Tg(Nes-cre)1Atp/0 (conditional) |
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| Bicd2tm1Hgrd/Bicd2tm1Hgrd Tg(GFAP-cre)25Mes/0 (conditional) |
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| Bicd2tm1Hgrd/Bicd2tm1Hgrd Emx1tm1(cre)Krj/Emx1+ (conditional) |
* | |||||||||||||||||||||||||
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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