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No Human Gene Data Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 22
 
22
Deletion
 2
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 

Model Summary

Disruption of Slc16a8 leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current.

References

Type
Title
Author, Year
Primary
Altered visual function in monocarboxylate transporter 3 (Slc16a8) knockout mice.

M_SLC16A8_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted disruption of 2.2 kb of DNA spanning the entire coding portion of exons 2-4 of Slc16a8 gene.
Allele Type: Targeted (knockout)
Strain of Origin: Not specified
Genetic Background: C57B1/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_SLC16A8_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroretinogram (ERG)1
Decreased
Description: Decreased ERG response indicated by reduced magnitude of photoreceptor-derived a-wave and bipolar cell-derived b-waves
Exp Paradigm: Electroretinogram record
 Electroretinogram (ERG)
 9 weeks
Gene expression1
Decreased
Description: Decreased expression of Slc16a8 in basolateral membrane of RPE
Exp Paradigm: Slc16A8 Expression
 Immunohistochemistry
 3 months
Protein expression level evidence1
Decreased
Description: Decreased mRNA and protein expression of Slc16a8 in RPE
Exp Paradigm: Slc16A8 Mrna/Protein Expression-Semi-quantitative PCR (qRT-PCR)
 Semi-quantitative PCR (qRT-PCR)
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased mRNA and protein expression of Slc16a8 in RPE
Exp Paradigm: Slc16A8 Mrna/Protein Expression- Western blot
 Western blot
 Unreported
Protein expression level evidence1
Increased
Description: Increased lactate concentration in retinal washes
Exp Paradigm: Lactate Expression
 Enzymatic measurement of lactate in retinas
 3-4 months
Protein expression level evidence1
Abnormal
Description: Abnormal CD147 expression in the apical membrane of RPE
Exp Paradigm: Cd147 Expression
 Immunohistochemistry
 3 months
Protein expression level evidence1
Increased
Description: Increased expression of Mct1 in RPE
Exp Paradigm: Mct1 Protein Expression
 Western blot
 3-4 months
General characteristics1
 No Change
 General observations
 Unreported
Cell adhesion1
 No Change
 Immunohistochemistry: fluorescence microscopy
 12 months
Protein expression level evidence1
 No Change
 Western blot
 6 months
Electroretinogram (ERG)1
 No Change
 Electroretinogram (ERG)
 Unreported
Morphology of the retina1
 No Change
 Histology: Histology
 9 months
Morphology of the retina1
 No Change
 Electron microscopy
 9 months
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Social behavior

No PIN Data Available
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