Genetic Animal Models / IQSEC2

IQSEC2 IQ motif and Sec7 domain 2

Model Species
Mus musculus
Gene Aliases
Brag1
Reports
1
Associated Human Genes
IQSEC2
Models / Rescue Models
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Rescue Model
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Model Summary

Mice harboring the humanized A350V mutation in the IQSEC2 gene show reduced surface expression of GluA2 AMPA receptors in mouse hippocampal tissue, reduced basal synaptic transmission in the hippocampus, increased locomotion, abnormal social behavior and spatial learning deficits.

Reports related to IQSEC2 (1 Reports)
# Type Title Author, Year
1 Primary An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. Rogers EJ , et al. (2019)
Show all Construct Details Show all Phenotypic Profiles

M_Iqsec2_1_KI_HM_A350V

Model Type: Genetic
Model Genotype: Homozygous/Hemizygous

Mutation:

Mouse Iqsec2 (NM_001005475.2) with an A350V mutation identical to that found in the human where codon GCT (Ala) at amino acid 350 is mutated to GTT (Val) and an additional AGG to CGT silent mutation (R349) to prevent the guide RNA from targeting the same allele after repair.

Allele Type: Humanized LOF mutation
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: Applied Stem Cells (Milpitas, CA, United States)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Reproductive function No Change General observations Adult Rogers EJ , et al. (2019)
Learning Spatial reference memory Decreased Morris water maze test 5-7 weeks Rogers EJ , et al. (2019)
Learning Spatial learning Decreased Morris water maze test 5-7 weeks Rogers EJ , et al. (2019)
Motor phenotype Motor coordination and balance No Change Accelerating rotarod test 5-7 weeks Rogers EJ , et al. (2019)
Motor phenotype General locomotor activity: Ambulatory activity Increased Open field test 5-7 weeks Rogers EJ , et al. (2019)
Motor phenotype General locomotor activity Increased Three-chamber social approach test 5-7 weeks Rogers EJ , et al. (2019)
Motor phenotype General locomotor activity Increased Open field test 5-7 weeks Rogers EJ , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: AMPA receptors Decreased Western blot 6-8 weeks Rogers EJ , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: AMPA receptors Decreased Immunohistochemistry 6-8 weeks Rogers EJ , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: AMPA receptors Decreased Flow cytometric analysis 6-8 weeks Rogers EJ , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No Change Magnetic resonance imaging (MRI) Adult Rogers EJ , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No Change Magnetic resonance imaging (MRI) Adult Rogers EJ , et al. (2019)
Neurophysiology EPSP-spike relationship Decreased Field potential recordings 18-20 weeks Rogers EJ , et al. (2019)
Social behavior Social memory No Change Three-chamber social approach test 5-7 weeks Rogers EJ , et al. (2019)
Social behavior Social approach Decreased Three-chamber social approach test 5-7 weeks Rogers EJ , et al. (2019)
Emotion Anxiety No Change Open field test 5-7 weeks Rogers EJ , et al. (2019)
Molecular profile Targeted expression No Change Western blot Not reported Rogers EJ , et al. (2019)
CNVs associated with IQSEC2(1 Models)
Xp11.22 20 Deletion-Duplication 29  /  51
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