Genetic Animal Models / OTUD7A

OTUD7A OTU deubiquitinase 7A

Model Species
Mus musculus
Gene Aliases
Otud7; AJ430384
Reports
1
Associated Human Genes
OTUD7A
Models / Rescue Models
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Rescue Model
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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).

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 - Not Reported - - Yin J , et al. (2018)
Motor phenotype Negative Geotaxis Decreased Negative geotaxis test 0-2 weeks Yin J , et al. (2018)
Motor phenotype Motor coordination and balance: 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)
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: 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)
Homeostasis - Not Reported - - Yin J , et al. (2018)
Immune response - Not Reported - - 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 - Not Reported - - Yin J , et al. (2018)
Molecular profile - Not Reported - - 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 - Not Reported - - 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 coordination and balance: 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 - Not Reported - - Yin J , et al. (2018)
Neurophysiology - Not Reported - - 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 - Not Reported - - 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)
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: 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)
Homeostasis - Not Reported - - Yin J , et al. (2018)
Immune response - Not Reported - - 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 - Not Reported - - Yin J , et al. (2018)
Molecular profile - Not Reported - - Yin J , et al. (2018)
CNVs associated with OTUD7A(1 Models)
15q13.3 66 Deletion-Duplication 102  /  417
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