| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Increased
Description: Increased cell number in paravertebral sympathetic chains and superior cervical ganglia
Exp Paradigm: Dissociation of chains and culturing of neurons for 24 hrs
|
NA |
E12.5 |
| |
|
Description: Increased cell number in paravertebral sympathetic chains and superior cervical ganglia
Exp Paradigm: Dissociation of chains and culturing of neurons for 24 hrs |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Increased
Description: 50% increase in mitotic index in sympathetic ganglia
Exp Paradigm: Numeration of mitotic figures on h + e stained slides of sympathetic ganglia
|
NA |
Unreported |
| |
|
Description: 50% increase in mitotic index in sympathetic ganglia
Exp Paradigm: Numeration of mitotic figures on h + e stained slides of sympathetic ganglia |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain development1 |
Abnormal
Description: Hyperplasia of prevertebral and paravertebral sympathetic ganglia; large cell bodies with big nuclei, prominent nucleoli, fine dendritic morphology
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of sympathetic ganglia
|
Histology |
E13.5 |
| |
|
Description: Hyperplasia of prevertebral and paravertebral sympathetic ganglia; large cell bodies with big nuclei, prominent nucleoli, fine dendritic morphology
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of sympathetic ganglia |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Increased
Description: Increased mitotic index in sympathetic ganglia
Exp Paradigm: Numeration of mitotic figures on h + e stained slides of sympathetic ganglia
|
Cell counting |
Unreported |
| |
|
Description: Increased mitotic index in sympathetic ganglia
Exp Paradigm: Numeration of mitotic figures on h + e stained slides of sympathetic ganglia |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain development1 |
Abnormal
Description: Hyperplasia of prevertebral and paravertebral sympathetic ganglia
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of sympathetic ganglia
|
Histology |
E13.5 |
| |
|
Description: Hyperplasia of prevertebral and paravertebral sympathetic ganglia
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of sympathetic ganglia |
|
|
| Developmental profile |
Mortality/lethality1 |
Increased
Description: Embryonic lethal by 14.5 days in development
Exp Paradigm: Histological analysis of embryos
|
Histology |
E11.5-e14.5 |
| |
|
Description: Embryonic lethal by 14.5 days in development
Exp Paradigm: Histological analysis of embryos |
|
|
| Developmental profile |
Cardiovascular development and function1 |
Abnormal
Description: Significant ventricular septal defect; less developed interventricular septum (ivs); un-separated pulmonary artery and aorta at the right ventricle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart
|
Histology |
E13.5 |
| |
|
Description: Significant ventricular septal defect; less developed interventricular septum (ivs); un-separated pulmonary artery and aorta at the right ventricle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Hypoplasia of liver with focal necrosis and hemorrhage; hypoplastic skeletal muscle; thinner musculature of stomach and abdominal muscle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of liver, skeletal muscle, and stomach and abdominal muscles
|
Histology |
E13.5 |
| |
|
Description: Hypoplasia of liver with focal necrosis and hemorrhage; hypoplastic skeletal muscle; thinner musculature of stomach and abdominal muscle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of liver, skeletal muscle, and stomach and abdominal muscles |
|
|
| Developmental profile |
Cardiovascular development and function1 |
Abnormal
Description: Globular, hypoplastic hearts; disoriented and poorly developed myocardial fibers; significant ventricular septal defect
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart
|
Histology |
E13.5 |
| |
|
Description: Globular, hypoplastic hearts; disoriented and poorly developed myocardial fibers; significant ventricular septal defect
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Enlarged head, chest bulge, pale liver, small eyes
Exp Paradigm: General observations
|
General observations |
E13.5 |
| |
|
Description: Enlarged head, chest bulge, pale liver, small eyes
Exp Paradigm: General observations |
|
|
| Developmental profile |
Cardiovascular development and function1 |
Abnormal
Description: Abnormal cardiac valves: atrioventricular canal lacked cellular density; loose, myxoid appearance of endocardial cushion
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart
|
Histology |
E13.5 |
| |
|
Description: Abnormal cardiac valves: atrioventricular canal lacked cellular density; loose, myxoid appearance of endocardial cushion
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart |
|
|
| Developmental profile |
Cardiovascular development and function1 |
Abnormal
Description: Significant ventricular septal defect; less developed interventricular septum (ivs); unseperated pulmonary artery and aorta at the right ventricle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart
|
Histology |
E13.5 |
| |
|
Description: Significant ventricular septal defect; less developed interventricular septum (ivs); unseperated pulmonary artery and aorta at the right ventricle
Exp Paradigm: Hematoxylin and eosin staining of sagittal sections of heart |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: No nf1 protein detected
Exp Paradigm: Nf1 protein expression
|
Western blot |
Unreported |
| |
|
Description: No nf1 protein detected
Exp Paradigm: Nf1 protein expression |
|
|
| Molecular profile |
Gene expression1 |
Decreased
Description: Weak signal of nf1 rna detected
Exp Paradigm: Nf1 rna expression
|
Quantitative pcr (qrt-pcr) |
Unreported |
| |
|
Description: Weak signal of nf1 rna detected
Exp Paradigm: Nf1 rna expression |
|
|
| Molecular profile |
Gene expression1 |
Decreased
Description: No nf1 rna transcripts detected
Exp Paradigm: Nf1 rna expression
|
Northern blot |
Unreported |
| |
|
Description: No nf1 rna transcripts detected
Exp Paradigm: Nf1 rna expression |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain development1 |
No change |
Histology |
E11.5-e13.5 |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |
