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.
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:
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:
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:
Description: The number of dendrites is increased in the fast spiking interneurons in the cortico-striatal slices of parvalbumin null mice.
Exp Paradigm: NA
Description: Significantly reduced paired pulse facilitation(short term plasticity) is observed between cortical- fast spiking interneurons
Exp Paradigm: NA
Description: The probability of release of neurotransmitter is decreased for the second excitatory post-synaptic current, in cortico-striatal slices of parvalbumin null mice
Exp Paradigm: NA
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
Description: Parvalbumin null juvenile mice show decreased ultrasonic vocalization emissions and duration during reciprocal social interaction test
Exp Paradigm: NA
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
Exp Paradigm: NA
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
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
Description: Significantly reduced paired pulse facilitation(short term plasticity) is observed between cortical- fast spiking interneurons
Exp Paradigm: NA
