| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain anatomy1 |
Abnormal
Description: Drastically decreased volume of ventricles; no change in apparent diffusion coefficient (adc) value
Exp Paradigm: Mri volumetry for brain ventricle volume, brain water content, and adc maps
|
Magnetic resonance imaging (mri) |
Unreported |
| |
|
Description: Drastically decreased volume of ventricles; no change in apparent diffusion coefficient (adc) value
Exp Paradigm: Mri volumetry for brain ventricle volume, brain water content, and adc maps |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain anatomy1 |
Abnormal
Description: Drastically reduced apical microvilli; enlarged lateral intercellular spaces; aberrant placement of chroid plexus near the walls of ventricles
Exp Paradigm: Histological and electron microscopy analysis
|
Histology |
Unreported |
| |
|
Description: Drastically reduced apical microvilli; enlarged lateral intercellular spaces; aberrant placement of chroid plexus near the walls of ventricles
Exp Paradigm: Histological and electron microscopy analysis |
|
|
| Neurophysiology |
Network excitability1 |
Decreased
Description: Decreased frequency of interictal-like events; decreased rebound increase in network event frequency after washout
Exp Paradigm: In vitro 4-aminopyridine (4-ap) model with field potential recordings from ca3 stratum pyramidale networks
|
Field potential recordings |
Unreported |
| |
|
Description: Decreased frequency of interictal-like events; decreased rebound increase in network event frequency after washout
Exp Paradigm: In vitro 4-aminopyridine (4-ap) model with field potential recordings from ca3 stratum pyramidale networks |
|
|
| Seizure |
Seizures1 |
Increased
Description: Increased latency until onset of myoclonic jerks; no progression to generalized seizures; decreased mortality due to seizures
Exp Paradigm: Susceptiblity to chemically induced seizures using 40 mg/kg pentylenetetrazole (ptz)
|
Observation of chemically induced seizures |
Unreported |
| |
|
Description: Increased latency until onset of myoclonic jerks; no progression to generalized seizures; decreased mortality due to seizures
Exp Paradigm: Susceptiblity to chemically induced seizures using 40 mg/kg pentylenetetrazole (ptz) |
|
|
| Seizure |
Seizures1 |
Increased
Description: Increased latency until onset of generalized seizures
Exp Paradigm: Susceptibility to seizure induced by hyperthermia (febrile seizures)
|
Observation of hyperthermia induced seizures |
P10 |
| |
|
Description: Increased latency until onset of generalized seizures
Exp Paradigm: Susceptibility to seizure induced by hyperthermia (febrile seizures) |
|
|
| Physiological parameters |
Blood volume and ph1 |
Abnormal
Description: Decreased rate of phi recovery; decreased alkaline overshoot; no change in baseline ph
Exp Paradigm: Bcecf fluorescence imaging of brain slices exposed to acid shift with 20mm propionate in bath solution
|
Fluorescence microscopy |
8-12 weeks |
| |
|
Description: Decreased rate of phi recovery; decreased alkaline overshoot; no change in baseline ph
Exp Paradigm: Bcecf fluorescence imaging of brain slices exposed to acid shift with 20mm propionate in bath solution |
|
|
| Physiological parameters |
Blood volume and ph1 |
Decreased
Description: Decreased na+ -dependent recovery of phi in the presence of bicarbonate
Exp Paradigm: Recovery of isolated clusters of choroid plexus epithelial cells' ph from acid-loading
|
Fluorescence microscopy |
Unreported |
| |
|
Description: Decreased na+ -dependent recovery of phi in the presence of bicarbonate
Exp Paradigm: Recovery of isolated clusters of choroid plexus epithelial cells' ph from acid-loading |
|
|
| Developmental profile |
Mortality/lethality1 |
Increased
Description: Increased lethality around weaning
Exp Paradigm: General observations
|
General observations |
2 months |
| |
|
Description: Increased lethality around weaning
Exp Paradigm: General observations |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Abnormal diet: soft food diet from 2 weeks
Exp Paradigm: General observations
|
General observations |
2 weeks |
| |
|
Description: Abnormal diet: soft food diet from 2 weeks
Exp Paradigm: General observations |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Absence of slc4a10 protein in choroid plexus, cortex, olfactory bulb, cerebellum, brainstem, and spinal cord
Exp Paradigm: Slc4a10 protein expression
|
Immunohistochemistry |
Unreported |
| |
|
Description: Absence of slc4a10 protein in choroid plexus, cortex, olfactory bulb, cerebellum, brainstem, and spinal cord
Exp Paradigm: Slc4a10 protein expression |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Absence of slc4a10 protein in brain tissue
Exp Paradigm: Slc4a10 protein expression
|
Western blot |
Unreported |
| |
|
Description: Absence of slc4a10 protein in brain tissue
Exp Paradigm: Slc4a10 protein expression |
|
|
| Learning & memory |
Spatial reference memory1 |
No change |
Morris water maze test |
3-4 months |
| Motor phenotype |
General locomotor activity1 |
No change |
Light-dark exploration test |
3-4 months |
| Motor phenotype |
Motor coordination and balance1 |
No change |
Accelerating rotarod test |
3-4 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
6 months |
| Sensory |
Startle response: acoustic stimulus1 |
No change |
Acoustic startle reflex test |
3-4 months |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Emotion, Immune response, Maternal behavior, Physiological parameters, Repetitive behavior, Social behavior, |
