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Animal Chromosome Info
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Model Summary
C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion the human 3q29 CNV in the syntenic region on the mouse chromosome 16 show reduced body weight, impaired social interaction, cognitive function, acoustic startle, and amphetamine sensitivity, with some sexual dimorphism. Dlg1het mice did not exhibit the behavioral deficits seen in mice harboring the full 3q29 deletion.
Reports related to m (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion | Rutkowski TP et al. (2021) |
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Show all Phenotypic Profiles
M_DF(3)_1_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion of the human 3q29 CNV syntenic region on the mouse chromosome 16 between Chr.16:31,369,117 (GRCm38.p3) and Chr.16:32,634,414 (GRCm38.p3) [ genotype: B6.Del16^+/Bdh1-Tfrc].
Allele Type: Targeted
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N
Es cell line: C57BL/6N
Model Source: Charles River; Emory Transgenic and Gene Targeting core
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Locomotor activity in diurnal cycle | No change | Novel cage test | 4 months | Rutkowski TP et al. (2021) |
| Communications | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 1 - 17 weeks | Rutkowski TP et al. (2021) |
| Emotion | Anxiety | No change | Elevated plus maze test | 4 months | Rutkowski TP et al. (2021) |
| Emotion | Anxiety | No change | Open field test | 4 months | Rutkowski TP et al. (2021) |
| Emotion | Fear response | Increased | Fear conditioning test | 4 months | Rutkowski TP et al. (2021) |
| Emotion | Fear response | No change | Fear conditioning test | 4 months | Rutkowski TP et al. (2021) |
| Immune response | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | 4 months | Rutkowski TP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 4 months | Rutkowski TP et al. (2021) |
| Learning & memory | Spatial learning | No change | Morris water maze test | 4 months | Rutkowski TP et al. (2021) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | 4 months | Rutkowski TP et al. (2021) |
| Learning & memory | Spatial reference memory | Decreased | Morris water maze test | 4 months | Rutkowski TP et al. (2021) |
| Maternal behavior | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Molecular profile | Targeted expression | Decreased | Western blot | Adult | Rutkowski TP et al. (2021) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | Adult | Rutkowski TP et al. (2021) |
| Motor phenotype | Hyperactivity | Decreased | Novel cage test | 4 months | Rutkowski TP et al. (2021) |
| Motor phenotype | Swimming ability | Increased | Morris water maze test | 4 months | Rutkowski TP et al. (2021) |
| Motor phenotype | Swimming ability | No change | Morris water maze test | 4 months | Rutkowski TP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain development | No change | Immunofluorescence staining | E15.5 | Rutkowski TP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Adult | Rutkowski TP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Measurement of tissue weight | Adult | Rutkowski TP et al. (2021) |
| Neurophysiology | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Physiological parameters | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | 4 months | Rutkowski TP et al. (2021) |
| Seizure | - | Not reported | - | - | Rutkowski TP et al. (2021) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 4 months | Rutkowski TP et al. (2021) |
| Sensory | Startle response: acoustic stimulus | Increased | Acoustic startle reflex test | 4 months | Rutkowski TP et al. (2021) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 4 months | Rutkowski TP et al. (2021) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 4 months | Rutkowski TP et al. (2021) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 4 months | Rutkowski TP et al. (2021) |
Human CNVs associated with m(1 CNV)
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| 3q29 | 69 | Deletion-Duplication | 104 / 495 |