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Relevance to Autism

Parvalbumin knockout mice were found to display behavioral phenotypes with relevance to all three core symptoms present in human ASD patients (abnormal reciprocal social interactions, impairments in communication and repetitive and stereotyped patterns of behavior), as well as several signs of ASD-associated comorbidities, such as reduced pain sensitivity and startle responses (Wohr et al., 2015). Soghomonian et al., 2017 observed that parvalbumin mRNA levels were significantly lower in Purkinje cells in ASD brains compared to control brains.

Molecular Function

The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities.
Recent Recommendation
Decreased parvalbumin mRNA levels in cerebellar Purkinje cells in autism.
ASD

Rare

No Rare Variants Available

Common

No Common Variants 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
 

Model Summary

Parvalbumin null mice have behavioral deficits in social interaction including ultrasonic vocalization during social interaction.

References

Type
Title
Author, Year
Primary
Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities.

M_PVALB_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A fragment encompassing a portion of exon 2 and all of exons 3 and 4 was replaced with a PGK-neo cassette inserted by homologous recombination. Approximately 85% (nt 25 to 304) of the coding region is deleted. The mice were backcrossed for >10 generations in the C57BL/6 background.
Allele Type: Targeted (knockout)
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PVALB_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: A fragment encompassing a portion of exon 2 and all of exons 3 and 4 was replaced with a PGK-neo cassette inserted by homologous recombination. Approximately 85% (nt 25 to 304) of the coding region is deleted. The mice were backcrossed for >10 generations in the C57BL/6 background.
Allele Type: Targeted (knockout)
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PVALB_3_KO_HM_PTZ

Model Type: Pharmaceutical intervention
Model Genotype: Homozygous
Mutation: Parvalbumin null mice were treated with pentylenetetrazole to induce seizures.
Allele Type: Targeted (knockout)
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_PVALB_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neocortex morphology: size1
Increased
Description: The neocortex is enlarged, compared to control littermates in juvenile parvalbumin null mice
 Magnetic resonance imaging (MRI): volume of neocortex
 P20
Dendritic architecture: spine density1
Increased
Description: The number of dendrites is increased in the fast spiking interneurons in the cortico-striatal slices of parvalbumin null mice.
 Sholl analysis
 P18-P24
Cerebellar morphology1
Decreased
Description: The cerebellum is smaller in juvenile parvalbumin null mice
 Magnetic resonance imaging (MRI): volume of cerebellum
 P20
Neural spike train signal frequency1
Decreased
Description: Stronger depression in the evoked EPSCs trains in the cortical neuron- fast spiking interneuron synapse
 Whole-cell patch clamp
 P18-P24
Presynaptic function: paired-pulse facilitation1
Decreased
Description: Significantly reduced paired pulse facilitation(short term plasticity) is observed between cortical- fast spiking interneurons
 Paired-pulse ratio: cortical neuron to fast spiking neuron
 P18-P24
Neurotransmitter release: quantal parameters1
Decreased
Description: The probability of release of neurotransmitter is decreased for the second excitatory post-synaptic current, in cortico-striatal slices of parvalbumin null mice
 Whole-cell patch clamp
 P18-P24
Pain or nociception1
Decreased
Description: Parvalbumin null mice display reduced perception of pain in the tail flick and hot plate test
Exp Paradigm:  Hot plate test
 Hot plate test
 Unreported
Startle response: acoustic stimulus1
Decreased
Description: Parvalbumin null mice have reduced response to strong startle stimuli
 Acoustic startle reflex test
 Unreported
Pain or nociception1
Decreased
Description: Parvalbumin null mice display reduced perception of pain in the tail flick and hot plate test
Exp Paradigm: Tail flick test
 Tail flick test
 Unreported
Social interaction1
Decreased
Description: Social interaction is significantly reduced in parvalbumin null mice.
 Reciprocal social interaction test
 3-4 weeks
Ultrasonic vocalization: Interaction induced1
Decreased
Description: Parvalbumin null juvenile mice show decreased ultrasonic vocalization emissions and duration during reciprocal social interaction test
 Monitoring ultrasonic vocalizations: reciprocal interaction
 3 weeks
Ultrasonic vocalization: Interaction induced: opposite sex stimulus1
Decreased
Description: Parvalbumin null adult male mice show decreased induction of ultrasonic vocalization following exposure of female stimulus mice
Exp Paradigm: Males only
 Reciprocal social interaction test: Female induced
 4 months
Anxiety1
Increased
Description: Anxiety appears to be increased in parvalbumin null mice in the open field test assesses by larger speed differene between centrifugal and centripetal locomotion
 Open field test
 Adult
Cognitive flexibility: Associative learning1
Decreased
Description: In the reversal training phase of both T maze and Morris water maze, parvalbumin null mice are deficient in learning the new position of the target reward or platform demonstrating reduced cognitive flexibility
Exp Paradigm: T-maze test
 T-maze test
 Adult
Cognitive flexibility: Associative learning1
Decreased
Description: In the reversal training phase of both T maze and Morris water maze, parvalbumin null mice are deficient in learning the new position of the target reward or platform demonstrating reduced cognitive flexibility
Exp Paradigm:  Morris water maze test
 Morris water maze test
 Adult
Ultrasonic vocalization: Isolation induced1
 No Change
 Monitoring ultrasonic vocalizations
 P8
Anxiety1
 No Change
 Light-dark exploration test: Light-dark exploration test
 Adult
Anxiety1
 No Change
 Light-dark exploration test: Light-dark exploration test
 Adult
Depression1
 No Change
 Sucrose preference test
 Adult
Exploratory activity1
 No Change
 Open field test
 Adult
Reward reinforced choice behavior1
 No Change
 T-maze test
 Adult
Spatial reference memory1
 No Change
 Morris water maze test
 Adult
Grip strength1
 No Change
 Grip strength test
 Adult
Motor coordination and balance1
 No Change
 Open field test
 Adult
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 Adult
Swimming ability1
 No Change
 Morris water maze test
 Adult
Cerebellar morphology1
 No Change
 Magnetic resonance imaging (MRI): volume of cerebellum
 Adult
Hippocampal morphology1
 No Change
 Magnetic resonance imaging (MRI): volume of hippocampus
 P20, adult
Neocortex morphology: size1
 No Change
 Magnetic resonance imaging (MRI): volume of neocortex
 Adult
Seizures1
 No Change
 Observation of seizures
 Adult
Sensorimotor gating1
 No Change
 Prepulse inhibition
 Unreported
Rearing behavior1
 No Change
 Reciprocal social interaction test
 3-4 weeks
Self grooming: social context1
 No Change
 Reciprocal social interaction test
 3-4 weeks
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Homeostasis, Immune response, Maternal behavior, Molecular profile, Repetitive behavior

M_PVALB_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neocortex morphology: size1
Increased
Description: Parvalbumin het mice have transiently increased volume of the neocortex
 Magnetic resonance imaging (MRI): volume of neocortex
 P20
Presynaptic function: paired-pulse facilitation1
Decreased
Description: Significantly reduced paired pulse facilitation(short term plasticity) is observed between cortical- fast spiking interneurons
 Paired-pulse ratio: cortical neuron to fast spiking neuron
 P18-24
Neural spike train signal frequency1
Decreased
Description: Stronger depression in the evoked EPSCs trains in the cortical neuron- fast spiking interneuron synapse
 Whole-cell patch clamp
 P18-24
Social interaction1
Decreased
Description: Parvalbumin het mice display reduced time spent in reciprocal social interaction
 Reciprocal social interaction test
 3 weeks
Ultrasonic vocalization: Interaction induced1
Decreased
Description: Parvalbumin het mice do not show any difference in ultrasonic vocalization during social interaction
 Monitoring ultrasonic vocalizations
 3 weeks
Ultrasonic vocalization: Interaction induced: opposite sex stimulus1
 No Change
 Reciprocal social interaction test: Female induced
 4 months
Ultrasonic vocalization: Isolation induced1
 No Change
 Monitoring ultrasonic vocalizations
 P8
Neocortex morphology: size1
 No Change
 Magnetic resonance imaging (MRI): volume of neocortex
 Adult
Rearing behavior1
 No Change
 Reciprocal social interaction test
 3 weeks
Self grooming: social context1
 No Change
 Reciprocal social interaction test
 3 weeks
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Repetitive behavior, Seizure, Sensory

M_PVALB_3_KO_HM_PTZ

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Seizure threshold1
Decreased
Description: Parvalbumin null mice have reduced threshold for chemically induced seizures
 Observation of chemically induced seizures
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Sensory, Social behavior

No PIN Data Available
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