OTUD7A OTU deubiquitinase 7A
Model Species
Mus musculusGene Aliases
Otud7; AJ430384Models / Rescue Models
-Rescue Model
-Model Summary
Otud7a-null mice show reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalizations, decreased grip strength, impaired motor learning/motor coordination, reduced acoustic startle, decreased spine density and reduced frequency of miniature excitatory postsynaptic currents (mEPSCs) in the frontal cortex compared to their wild-type littermates (Yin J, Am J Hu Genet, 2018).
External Links
Reports related to OTUD7A (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. | Yin J , et al. (2018) |
Show all Construct Details
Show all Phenotypic Profiles
M_OTUD7A_1_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
C57BL/6J female mice were superovulated and mated with C57BL/6J males, and fertilized eggs were collected from the oviduct. The pronuclear-stage eggs at 1-cell stage were injected with Cas9 and sgRNAs targeting exon 4 to 6 of OTUD7A. The eggs were cultivated in kSOM overnight and then transferred into the oviducts of pseudopregnant FVB females. Heterozygous founders from CRISPR/Cas9 microinjection were backcrossed to wild-type mice (C57BL/6J) for two generations to obtain heterozygous mice for breeding pairs. The two sgRNAs deleted most of the OTU deubiquitinase domain, which created a premature stop codon in exon 8. .
Allele Type: knockout
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6J
Es cell line: Not reported
Model Source: 29395075; Jackson Laboratory JAX#031294.
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Motor phenotype | Negative geotaxis | Decreased | Negative geotaxis test | 0-2 weeks | Yin J , et al. (2018) |
| Motor phenotype | Motor learning | Decreased | Accelerating rotarod test | 2.75 months | Yin J , et al. (2018) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 2.75 months | Yin J , et al. (2018) |
| Motor phenotype | Grip strength | No change | Grip strength test | 6.25 months | Yin J , et al. (2018) |
| Motor phenotype | Grip strength | Decreased | Grip strength test | 6.25 months | Yin J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 2.5 months | Yin J , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | No change | Golgi-cox staining | 4 weeks | Yin J , et al. (2018) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Decreased | Golgi-cox staining | 4 weeks | Yin J , et al. (2018) |
| Neurophysiology | Miniature post synaptic current frequency: excitatory | Decreased | Whole-cell patch clamp | 1-2.75 months | Yin J , et al. (2018) |
| Neurophysiology | Miniature post synaptic current amplitude: excitatory | No change | Whole-cell patch clamp | 1-2.75 months | Yin J , et al. (2018) |
| Repetitive behavior | Self grooming: perseveration | No change | Grooming behavior assessments | 2.5 months | Yin J , et al. (2018) |
| Repetitive behavior | Repetitive nose pokes | No change | Hole-board test | 2.5 months | Yin J , et al. (2018) |
| Seizure | Seizures | Increased | Electroencephalogram/electromyogram (eeg/emg) | 4 months | Yin J , et al. (2018) |
| Sensory | Vision | Decreased | Cliff avoidance test | 0-2 weeks | Yin J , et al. (2018) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 3.25 months | Yin J , et al. (2018) |
| Sensory | Sensorimotor gating | Decreased | Prepulse inhibition | 3.25 months | Yin J , et al. (2018) |
| Sensory | Hearing | No change | Auditory brainstem response test | 3 months | Yin J , et al. (2018) |
| Social behavior | Social memory | No change | Partition test | 3 months | Yin J , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 3 months | Yin J , et al. (2018) |
| Social behavior | Nest building behavior | No change | Nest building assay | 3.5 months | Yin J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Communications | Ultrasonic vocalization: isolation induced | Decreased | Monitoring ultrasonic vocalizations | P2, 4, 6, 8, 10, 0-1.5 weeks | Yin J , et al. (2018) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 0.5, 1, 2, 3 weeks | Yin J , et al. (2018) |
| Developmental profile | Developmental trajectory | Decreased | Developmental milestone measurements | 0-2 weeks | Yin J , et al. (2018) |
| Emotion | Depression | No change | Forced swim test | 3 months | Yin J , et al. (2018) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 2.5 months | Yin J , et al. (2018) |
| Emotion | Anxiety | No change | Light-dark exploration test | 2.5 months | Yin J , et al. (2018) |
| Emotion | Anxiety | No change | Open field test | 2.5 months | Yin J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6.75 months | Yin J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 3.25 months | Yin J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | Increased | Fear conditioning test | 3.25 months | Yin J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | 3.25 months | Yin J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Yin J , et al. (2018) |
M_OTUD7A_1_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
C57BL/6J female mice were superovulated and mated with C57BL/6J males, and fertilized eggs were collected from the oviduct. The pronuclear-stage eggs at 1-cell stage were injected with Cas9 and sgRNAs targeting exon 4 to 6 of OTUD7A. The eggs were cultivated in kSOM overnight and then transferred into the oviducts of pseudopregnant FVB females. Heterozygous founders from CRISPR/Cas9 microinjection were backcrossed to wild-type mice (C57BL/6J) for two generations to obtain heterozygous mice for breeding pairs. The two sgRNAs deleted most of the OTU deubiquitinase domain, which created a premature stop codon in exon 8. .
Allele Type: knockout
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6J
Es cell line: Not reported
Model Source: 29395075; Jackson Laboratory JAX#031294.
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Motor phenotype | Negative geotaxis | No change | Negative geotaxis test | 0-2 weeks | Yin J , et al. (2018) |
| Motor phenotype | Motor learning | No change | Accelerating rotarod test | 2.75 months | Yin J , et al. (2018) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 2.75 months | Yin J , et al. (2018) |
| Motor phenotype | Grip strength | No change | Grip strength test | 6.25 months | Yin J , et al. (2018) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 2.5 months | Yin J , et al. (2018) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Neurophysiology | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Repetitive behavior | Self grooming: perseveration | Decreased | Grooming behavior assessments | 2.5 months | Yin J , et al. (2018) |
| Repetitive behavior | Self grooming: perseveration | No change | Grooming behavior assessments | 2.5 months | Yin J , et al. (2018) |
| Repetitive behavior | Repetitive nose pokes | No change | Hole-board test | 2.5 months | Yin J , et al. (2018) |
| Seizure | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Sensory | Vision | No change | Cliff avoidance test | 0-2 weeks | Yin J , et al. (2018) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 3.25 months | Yin J , et al. (2018) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 3.25 months | Yin J , et al. (2018) |
| Sensory | Hearing | No change | Auditory brainstem response test | 3 months | Yin J , et al. (2018) |
| Social behavior | Social memory | No change | Partition test | 3 months | Yin J , et al. (2018) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 3 months | Yin J , et al. (2018) |
| Social behavior | Nest building behavior | No change | Nest building assay | 3.5 months | Yin J , et al. (2018) |
| Physiological parameters | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Communications | Ultrasonic vocalization: isolation induced | Decreased | Monitoring ultrasonic vocalizations | P2, 4, 6, 8, 10, 0-1.5 weeks | Yin J , et al. (2018) |
| Developmental profile | Size/growth | No change | Body weight measurement | 0.5, 1, 2, 3 weeks | Yin J , et al. (2018) |
| Developmental profile | Developmental trajectory | No change | Developmental milestone measurements | 0-2 weeks | Yin J , et al. (2018) |
| Emotion | Depression | No change | Forced swim test | 3 months | Yin J , et al. (2018) |
| Emotion | Anxiety | No change | Elevated plus maze test | 2.5 months | Yin J , et al. (2018) |
| Emotion | Anxiety | No change | Light-dark exploration test | 2.5 months | Yin J , et al. (2018) |
| Emotion | Anxiety | No change | Open field test | 2.5 months | Yin J , et al. (2018) |
| Immune response | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6.75 months | Yin J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 3.25 months | Yin J , et al. (2018) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | No change | Fear conditioning test | 3.25 months | Yin J , et al. (2018) |
| Maternal behavior | NA | Not reported | NA | NA | Yin J , et al. (2018) |
| Molecular profile | NA | Not reported | NA | NA | Yin J , et al. (2018) |
CNVs associated with OTUD7A(1 Models)
Sort By:
| 15q13.3 | 78 | Deletion-Duplication | 115 / 449 |