IQSEC2 IQ motif and Sec7 domain 2
Model Species
Mus musculusGene Aliases
Brag1Models / Rescue Models
-Rescue Model
-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.
External Links
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) |
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)
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| 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) |
| Physiological parameters | Reproductive function | No change | General observations | Adult | Rogers EJ , et al. (2019) |
| Emotion | Anxiety | No change | Open field test | 5-7 weeks | Rogers EJ , et al. (2019) |
| Learning & memory | Spatial reference memory | Decreased | Morris water maze test | 5-7 weeks | Rogers EJ , et al. (2019) |
| Learning & memory | Spatial learning | Decreased | Morris water maze test | 5-7 weeks | Rogers EJ , et al. (2019) |
| Molecular profile | Targeted expression | No change | Western blot | Not reported | Rogers EJ , et al. (2019) |
M_IQSEC2_2_KI_HE_S1474QFS
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
This model was created by knocking in human exon 15 from S1474 through 107 bp 3ââ¬Â² of exon 15 of the human IQSEC2 gene in place of the corresponding region of the murine IQSEC2 gene via gene targeting in embryonic stem cells.A frameshift was introduced by the insertion of a C nucleotide immediately 5ââ¬Â²of S1474. An additional 107 bp and an exogenous SV40 polyadenylation sequence was also introduced after chimeric exon 15.
Allele Type: ASD mutation
Strain of Origin: Mouse-human chimera
Genetic Background: C57BL/6J
Es cell line: Not applicable
Model Source: Ozgene Pty, Ltd. (Bentley WA, Australia)
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Communications | Ultrasonic vocalization: interaction induced: opposite sex stimulus | Decreased | Monitoring ultrasonic vocalizations | 8-10 weeks | - |
| Developmental profile | Size/growth | Decreased | Body weight measurement | P7-P19.5 | - |
| Molecular profile | Targeted expression | No change | Quantitative PCR (qRT-PCR) | unreported | - |
| Molecular profile | Targeted expression | Decreased | Western blot | unreported | - |
CNVs associated with IQSEC2(1 Models)
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| Xp11.22 | 27 | Deletion-Duplication | 36 / 63 |