| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Abnormal
Description: Decreased cortical thickness, increase in cell density of cerebral cortex, no change in total cell and neuron number in cortex; no change in hippocampus and hindbrain morphology
Exp Paradigm: Histological analysis followed by morphometric analysis of serial coronal sections of brains. h&e counts and neun staining counts
|
Histology |
Unreported |
| |
|
Description: Decreased cortical thickness, increase in cell density of cerebral cortex, no change in total cell and neuron number in cortex; no change in hippocampus and hindbrain morphology
Exp Paradigm: Histological analysis followed by morphometric analysis of serial coronal sections of brains. h&e counts and neun staining counts |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain size1 |
Decreased
Description: Limited reduction in brain size limited to forebrain
Exp Paradigm: Weight analysis
|
Pathology |
Unreported |
| |
|
Description: Limited reduction in brain size limited to forebrain
Exp Paradigm: Weight analysis |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain size1 |
Decreased
Description: Decreased brain size limited to forebrain
Exp Paradigm: Weight analysis
|
Pathology |
Unreported |
| |
|
Description: Decreased brain size limited to forebrain
Exp Paradigm: Weight analysis |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Reduction in cortical thickness, increase in cell density, no change in total cell and neuron number
Exp Paradigm: Histological analysis followed by morphometric analysis of serial coronal sections of brains. h&e counts and neun staining counts
|
Histology |
Unreported |
| |
|
Description: Reduction in cortical thickness, increase in cell density, no change in total cell and neuron number
Exp Paradigm: Histological analysis followed by morphometric analysis of serial coronal sections of brains. h&e counts and neun staining counts |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Growth retardation; reduction in body weight and size with appropriate reduction in organs size/weight; no evidence of tumor appearance
Exp Paradigm: General observations
|
General observations |
P3-p4, 14 months |
| |
|
Description: Growth retardation; reduction in body weight and size with appropriate reduction in organs size/weight; no evidence of tumor appearance
Exp Paradigm: General observations |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Growth retardation from 3 to 4 days after birth sustained into adulthood; reduction in both weight and size; no evidence of tumor appearance
Exp Paradigm: General observations
|
General observations |
P3-p4, 14 months |
| |
|
Description: Growth retardation from 3 to 4 days after birth sustained into adulthood; reduction in both weight and size; no evidence of tumor appearance
Exp Paradigm: General observations |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Absence of nf1 protein expression
Exp Paradigm: Nf1 protein expression
|
Immunohistochemistry |
Unreported |
| |
|
Description: Absence of nf1 protein expression
Exp Paradigm: Nf1 protein expression |
|
|
| Molecular profile |
Signaling1 |
Increased
Description: Increased levels of downstream signaling component p-erk in layers ii/iii and vi of cerebral cortex
Exp Paradigm: Downstream signaling activation
|
Western blot |
Unreported |
| |
|
Description: Increased levels of downstream signaling component p-erk in layers ii/iii and vi of cerebral cortex
Exp Paradigm: Downstream signaling activation |
|
|
| Molecular profile |
Protein expression level evidence1 |
Increased
Description: Increased astrocyte protein, astrogliosis throughout cerebral cortex, hippocampus, and brainstem; hypertrophic astrocytes with increased processes
Exp Paradigm: Astrocyte specific protein expression
|
Immunohistochemistry |
Unreported |
| |
|
Description: Increased astrocyte protein, astrogliosis throughout cerebral cortex, hippocampus, and brainstem; hypertrophic astrocytes with increased processes
Exp Paradigm: Astrocyte specific protein expression |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Complete lack of nf1 protein expression
Exp Paradigm: Nf1 protein expression
|
Immunohistochemistry |
Unreported |
| |
|
Description: Complete lack of nf1 protein expression
Exp Paradigm: Nf1 protein expression |
|
|
| Molecular profile |
Cell proliferation1 |
No change |
NA |
P0-p3, 5 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Dendritic architecture: spine density1 |
No change |
Golgi-cox staining |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal differentiation1 |
No change |
NA |
Unreported |
| Neurophysiology |
Apoptosis: brain cells1 |
No change |
Tunel assay |
Unreported |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |