| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Developmental profile |
Mortality/lethality1 |
Increased
Description: Embryonic lethal between 12.5-14 days of gestation
Exp Paradigm: General observations
|
General observations |
E12.5-e14 |
| |
|
Description: Embryonic lethal between 12.5-14 days of gestation
Exp Paradigm: General observations |
|
|
| Developmental profile |
Cardiovascular development and function1 |
Abnormal
Description: Abnormal great vessels: double outlet right ventricle; increased cell density of great vessel lining; distended pericardial sacs; thinner myocardium
Exp Paradigm: Gross dissection and histological analysis
|
Histology |
E13.5 |
| |
|
Description: Abnormal great vessels: double outlet right ventricle; increased cell density of great vessel lining; distended pericardial sacs; thinner myocardium
Exp Paradigm: Gross dissection and histological analysis |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Lack of full-length neurofibromin
Exp Paradigm: Nf1 protein expression
|
NA |
Unreported |
| |
|
Description: Lack of full-length neurofibromin
Exp Paradigm: Nf1 protein expression |
|
|
| Molecular profile |
Targeted expression1 |
Decreased
Description: Absence of full length nf1 protein
Exp Paradigm: Nf1 protein expression
|
Immunoprecipitation |
Unreported |
| |
|
Description: Absence of full length nf1 protein
Exp Paradigm: Nf1 protein expression |
|
|
| Developmental profile |
Cardiovascular development and function1 |
No change |
Macroscopic analysis |
E13.5 |
| Developmental profile |
General characteristics1 |
No change |
Macroscopic analysis |
Unreported |
| Developmental profile |
General characteristics1 |
No change |
Macroscopic analysis |
Unreported |
| Molecular profile |
Gene expression1 |
No change |
Northern blot |
E12.5 |
| Molecular profile |
Gene expression1 |
No change |
Northern blot |
E12.5 |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
Unreported |
|
| 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, |
