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Relevance to Autism

Mice that are heterozygous for the FOLH1 gene display abnormal social behavior, increased locomotor activity suggestive of hyperactivity, decreased motor coordination, and deceased spatial working memory (Han et al., 2009; Schaevitz et al., 2012).

Molecular Function

This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II.
Recent Recommendation
Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications f...

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 

Model Summary

Folh1 knockout appears to be both a good model to study NMDA receptor hypofunction as well as some of the behavioral characteristics of schizophrenia.

References

Type
Title
Author, Year
Primary
Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II.
Additional
Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications f...
Primary
Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications f...

M_FOLH1_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted cre/loxP deletion of exons 1 and 2 of the Folh1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_FOLH1_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted cre/loxP deletion of exons 1 and 2 of the Folh1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_FOLH1_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance2
Decreased
Description: Decreased motor coordination demonstrated by decreased latency to fall
Exp Paradigm: Female mice: Rotarod test
 Accelerating rotarod test
 3 months
General locomotor activity1
Increased
Description: Increased locomotor activity indicative of hyperactivity
Exp Paradigm: Open Field test
 Open field test
 7-26 weeks
Social withdrawal2
Abnormal
Description: Abnormal social withdrawal demonstrated by no tendency to spend more time investigating mouse over empty cage
Exp Paradigm: Social approach task
 Three-chamber social approach test
 3-4 months
Social interaction1
Abnormal
Description: Abnormal social interactions demonstrated by no preference for compartment with stranger mouse; deficit in ability to recognize the novel mouse
Exp Paradigm: Social interaction test
 Reciprocal social interaction test
 7 weeks - 6 months
Spatial working memory1
Decreased
Description: Decreased spatial working memory indicated by latency to new location of hidden platform
Exp Paradigm: Hidden Water Maze Test
 Morris water maze test
 7-26 weeks
Metabolite levels: Neurometabolites2
Increased
Description: Increased concentration of total glutathione
Exp Paradigm: Neurometabolite Concentration
 Proton NMR
 Unreported
Metabolite levels: Neurometabolites2
Increased
Description: Increased concentration of Glutamate to Glutamine
Exp Paradigm: Neurometabolite Concentration
 Proton NMR
 Unreported
Enzyme activity1
Decreased
Description: Decreased GCPII enzyme activity in the brain
Exp Paradigm: Gcpii Enzyme Function
 Enzyme assay: GCPII
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of GCPII protein
Exp Paradigm: Gcpii Protein Expression
 Western blot
 Unreported
Bioactive compound levels: folate2
Increased
Description: Increased folate levels in blood plasma
Exp Paradigm: Folate Blood Levels
 Microbiological assay for measuring folate concentration
 Unreported
General characteristics2
 No Change
 General observations
 Unreported
General characteristics1
 No Change
 General observations
 Unreported
Size/growth2
 No Change
 General observations
 Unreported
Spatial reference memory1
 No Change
 Morris water maze test
 7-26 weeks
Bioactive compound levels: folate2
 No Change
 Microbiological assay for measuring folate concentration
 Unreported
Gene expression1
 No Change
 Quantitative PCR (qRT-PCR)
 Unreported
Metabolite levels: Neurometabolites2
 No Change
 Proton NMR
 Unreported
General locomotor activity2
 No Change
 Home cage behavior: dark cycle
 3 months
Motor coordination and balance2
 No Change
 Accelerating rotarod test
 3 months
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 7-26 weeks
Swimming ability2
 No Change
 Morris water maze test
 Unreported
Sensorimotor gating1
 No Change
 Prepulse inhibition
 7-26 weeks
Sensorimotor gating2
 No Change
 Prepulse inhibition
 3.5 months
Startle response: acoustic stimulus2
 No Change
 Acoustic startle reflex test
 Unreported
Startle response: acoustic stimulus1
 No Change
 Acoustic startle reflex test: white noise stimulus
 7-26 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure

M_FOLH1_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Increased lethality demonstrated with no mice born
Exp Paradigm: General observations
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

No PIN Data Available
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