Genetic Mouse Models / POGZ

POGZ pogo transposable element derived with ZNF domain

Model Species
Mus musculus
Gene Aliases
9530006B08Rik
Reports
4
Associated Human Genes
POGZ
Models / Rescue Models
8 / 3
Rescue Model
-
Model Summary

Mice with Pogz KD show impaired cortical neuronal development, impaired neuronal migration and differentiation, increased neuronal excitability, and impaired mature cortical network function. Het POGZ^WT/Q1038R mice bearing the Q1038R mutation identified as de novo mutations in ASD patients, show reduced body weight, and brain size in adulthood, normal survival, decreased cortical thickness, no gross morphological changes, altered gene expression in NSCs, decreased anxiety, decreased sociability, increased self grooming, decreased juvenile play, increased usv frequency and duration, and increased activity of excitatory cortical neurons. POGZ^Q1038R/Q1038R mouse embryos (E15.5) showed a ventricular septal defect, which likely results in embryonic lethality. Compensatory inhibition of increased neuronal excitability in POGZ mutants using anti-epileptic agent perampanel restores sociability in het POGZ^WT/Q1038R mice.

Reports related to POGZ (4 Reports)
# Type Title Author, Year
1 Additional POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression Gudmundsdottir B et al. (2018)
2 Primary Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Matsumura K , et al. (2020)
3 Additional Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz Cunniff MM et al. (2020)
4 Additional Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ WT/Q1038R mouse model of autism spectrum disorder Kitagawa K et al. (2021)
Show all Construct Details Show all Phenotypic Profiles

M_POGZ_1_KD

Model Type: Genetic
Model Genotype: Wildtype

Mutation:

Four distinct commercial shRNAs, a miR30-based shRNA (shRNAmiR30) targeting Pogz and a pCAG-GFP reporter were injected into the lateral ventricle of E14.5 mouse forebrains to generate a Pogz KD mouse model. ASD related de novo mutant POGZ, R1004X,E1036K, Q1038R and E1043X were used as ASD-related positive controls and R1001H, F1047L, and H1080R were used as de novo mutant Pogz controls. Wt-Pogz construct was injected as control.

Allele Type: Knockdown
Strain of Origin: -
Genetic Background: ICR mice

Es cell line: -
Model Source: SLC, Shizuoka, Japan
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Matsumura K , et al. (2020)
Motor phenotype NA Not reported NA NA Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5, e16.5 Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Abnormal Immunohistochemistry E16.5 Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunohistochemistry E18.5 Matsumura K , et al. (2020)
Neurophysiology NA Not reported NA NA Matsumura K , et al. (2020)
Repetitive behavior NA Not reported NA NA Matsumura K , et al. (2020)
Seizure NA Not reported NA NA Matsumura K , et al. (2020)
Sensory NA Not reported NA NA Matsumura K , et al. (2020)
Social behavior NA Not reported NA NA Matsumura K , et al. (2020)
Physiological parameters NA Not reported NA NA Matsumura K , et al. (2020)
Communications NA Not reported NA NA Matsumura K , et al. (2020)
Developmental profile NA Not reported NA NA Matsumura K , et al. (2020)
Emotion NA Not reported NA NA Matsumura K , et al. (2020)
Immune response NA Not reported NA NA Matsumura K , et al. (2020)
Learning & memory NA Not reported NA NA Matsumura K , et al. (2020)
Maternal behavior NA Not reported NA NA Matsumura K , et al. (2020)
Molecular profile NA Not reported NA NA Matsumura K , et al. (2020)

M_POGZ_2_KI_HT_Q1038R

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Heterozygous POGZ^WT/Q1038R mice carrying the de novo ASD-related human Q1042R mutation were generated using CRISPR-Cas9 gene editing. Offsprings of Pogz heterozygous male and wildtype female matings were analyzed. BRC strain number RBRC09544.

Allele Type: Loss of function
Strain of Origin: -
Genetic Background: C57BL/6NJcl

Es cell line: -
Model Source: CLEA Japan, Tokyo, Japan
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle Locomotor activity in diurnal cycle Increased Home cage behavior 1.5-4 months Matsumura K , et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity No change Y-maze test 1.5-4 months Matsumura K , et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 1.5-4 months Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: OXT Decreased Quantitative PCR (qRT-PCR) 12 weeks Kitagawa K et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: OXT Decreased Western blot 12 weeks Kitagawa K et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Oxytocin expressing No change Immunofluorescence staining 12 weeks Kitagawa K et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Somatosensory cortical map architecture Abnormal Immunohistochemistry E18.5 Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: interneurons No change Immunohistochemistry Adult Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: excitatory neurons No change Immunohistochemistry Adult Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology of telencephalon Decreased Macroscopic analysis 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-cox staining 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Histology 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination Abnormal Immunohistochemistry Adult Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Abnormal Immunohistochemistry E18.5 Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Measurement of tissue weight 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Histology 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain anatomy No change Cranial computerized tomography (ct) scan Adult Matsumura K , et al. (2020)
Neurophysiology Neuronal activation: non-familiar social interaction Increased Fluorescence microscopy 10 weeks Matsumura K , et al. (2020)
Neurophysiology Miniature post synaptic current frequency: excitatory Increased Whole-cell patch clamp 10 weeks Matsumura K , et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 10 weeks Matsumura K , et al. (2020)
Repetitive behavior Self grooming: perseveration Increased Grooming behavior assessments 1.5-4 months Matsumura K , et al. (2020)
Repetitive behavior Perseveration No change Y-maze test 1.5-4 months Matsumura K , et al. (2020)
Seizure NA Not reported NA NA Matsumura K , et al. (2020)
Sensory Startle response: acoustic stimulus No change Prepulse inhibition 1.5-4 months Matsumura K , et al. (2020)
Sensory Sensorimotor gating No change Prepulse inhibition 1.5-4 months Matsumura K , et al. (2020)
Sensory Inner ear anatomy No change Histology Adult Matsumura K , et al. (2020)
Social behavior Social interaction Decreased Reciprocal social interaction test 12 weeks Kitagawa K et al. (2021)
Social behavior Social interaction Decreased Reciprocal social interaction test 1.5-4 months Matsumura K , et al. (2020)
Social behavior Juvenile play Decreased Reciprocal social interaction test 3 weeks Matsumura K , et al. (2020)
Physiological parameters NA Not reported NA NA Matsumura K , et al. (2020)
Communications Ultrasonic vocalization: isolation induced Increased Monitoring ultrasonic vocalizations P4 Matsumura K , et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement 1-12 weeks Matsumura K , et al. (2020)
Developmental profile Respiratory system development No change Histology Adult Matsumura K , et al. (2020)
Developmental profile Mortality/lethality No change Survival analysis P0 Matsumura K , et al. (2020)
Developmental profile Eye development No change Histology Adult Matsumura K , et al. (2020)
Developmental profile Digestive system morphology No change Histology Adult Matsumura K , et al. (2020)
Emotion Anxiety Decreased Open field test 1.5-4 months Matsumura K , et al. (2020)
Emotion Anxiety No change Light-dark exploration test 1.5-4 months Matsumura K , et al. (2020)
Immune response NA Not reported NA NA Matsumura K , et al. (2020)
Learning & memory Object recognition memory Decreased Novel object recognition test 1.5-4 months Matsumura K , et al. (2020)
Learning & memory Cued or contextual fear conditioning: memory of context Decreased Fear conditioning test 1.5-4 months Matsumura K , et al. (2020)
Maternal behavior NA Not reported NA NA Matsumura K , et al. (2020)
Molecular profile Signaling: notch pathway Increased Rna sequencing E16.5 Matsumura K , et al. (2020)
Molecular profile Gene expression Abnormal Rna sequencing E16.5 Matsumura K , et al. (2020)

M_POGZ_2_KI_HT_Q1038R_NBQX

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

10 week old male heterozygous POGZ^WT/Q1038R mice were intraperitoneally administered 10mg/kg of NBQX, 30 min before the behavioral test.

Allele Type: Loss of function
Strain of Origin: -
Genetic Background: C57BL/6NJcl

Es cell line: -
Model Source: CLEA Japan, Tokyo, Japan
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Matsumura K , et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity Refractory Open field test 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Matsumura K , et al. (2020)
Neurophysiology NA Not reported NA NA Matsumura K , et al. (2020)
Repetitive behavior NA Not reported NA NA Matsumura K , et al. (2020)
Seizure NA Not reported NA NA Matsumura K , et al. (2020)
Sensory NA Not reported NA NA Matsumura K , et al. (2020)
Social behavior Social interaction Restored Reciprocal social interaction test 10 weeks Matsumura K , et al. (2020)
Physiological parameters NA Not reported NA NA Matsumura K , et al. (2020)
Communications NA Not reported NA NA Matsumura K , et al. (2020)
Developmental profile NA Not reported NA NA Matsumura K , et al. (2020)
Emotion NA Not reported NA NA Matsumura K , et al. (2020)
Immune response NA Not reported NA NA Matsumura K , et al. (2020)
Learning & memory NA Not reported NA NA Matsumura K , et al. (2020)
Maternal behavior NA Not reported NA NA Matsumura K , et al. (2020)
Molecular profile NA Not reported NA NA Matsumura K , et al. (2020)

M_POGZ_2_KI_HT_Q1038R_OXT

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Oxytocin or saline was intranasally administered in mice at a volume of 0.2 ml/kg using a p20 micropipette 30 min before the reciprocal social interaction test.

Allele Type: Knockin
Strain of Origin: Not reported
Genetic Background: C57BL/6N

Es cell line: NA
Model Source: NA
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Social behavior Social interaction Restored Reciprocal social interaction test 12 weeks Kitagawa K et al. (2021)

M_POGZ_2_KI_HT_Q1038R_PERAMPANEL

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

10 week old male heterozygous POGZ^WT/Q1038R mice were administered 3mg/kg of perampanel dissolved in methyl cellulose, through oral gavaging, 3 min before the behavioral test.

Allele Type: Loss of function
Strain of Origin: -
Genetic Background: C57BL/6NJcl

Es cell line: -
Model Source: CLEA Japan, Tokyo, Japan
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Matsumura K , et al. (2020)
Motor phenotype General locomotor activity: ambulatory activity Refractory Open field test 10 weeks Matsumura K , et al. (2020)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Matsumura K , et al. (2020)
Neurophysiology NA Not reported NA NA Matsumura K , et al. (2020)
Repetitive behavior NA Not reported NA NA Matsumura K , et al. (2020)
Seizure NA Not reported NA NA Matsumura K , et al. (2020)
Sensory NA Not reported NA NA Matsumura K , et al. (2020)
Social behavior Social interaction Restored Reciprocal social interaction test 10 weeks Matsumura K , et al. (2020)
Physiological parameters NA Not reported NA NA Matsumura K , et al. (2020)
Communications NA Not reported NA NA Matsumura K , et al. (2020)
Developmental profile NA Not reported NA NA Matsumura K , et al. (2020)
Emotion NA Not reported NA NA Matsumura K , et al. (2020)
Immune response NA Not reported NA NA Matsumura K , et al. (2020)
Learning & memory NA Not reported NA NA Matsumura K , et al. (2020)
Maternal behavior NA Not reported NA NA Matsumura K , et al. (2020)
Molecular profile NA Not reported NA NA Matsumura K , et al. (2020)

M_POGZ_3_KI_HM_Q1038R

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Homozygous POGZ^Q1038R/Q1038R mice carrying the de novo ASD-related human Q1042R mutation were generated using CRISPR-Cas9 gene editing. Offsprings of Pogz heterozygous male and wildtype female matings were analyzed. BRC strain number RBRC09544.

Allele Type: Loss of function
Strain of Origin: -
Genetic Background: C57BL/6NJcl

Es cell line: -
Model Source: CLEA Japan, Tokyo, Japan
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Matsumura K , et al. (2020)
Motor phenotype NA Not reported NA NA Matsumura K , et al. (2020)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Matsumura K , et al. (2020)
Neurophysiology NA Not reported NA NA Matsumura K , et al. (2020)
Repetitive behavior NA Not reported NA NA Matsumura K , et al. (2020)
Seizure NA Not reported NA NA Matsumura K , et al. (2020)
Sensory NA Not reported NA NA Matsumura K , et al. (2020)
Social behavior NA Not reported NA NA Matsumura K , et al. (2020)
Physiological parameters NA Not reported NA NA Matsumura K , et al. (2020)
Communications NA Not reported NA NA Matsumura K , et al. (2020)
Developmental profile Mortality/lethality: embryonic Increased Survival analysis 1 week Matsumura K , et al. (2020)
Developmental profile Cardiovascular development and function Abnormal Micro-ct scanning E15.5 Matsumura K , et al. (2020)
Emotion NA Not reported NA NA Matsumura K , et al. (2020)
Immune response NA Not reported NA NA Matsumura K , et al. (2020)
Learning & memory NA Not reported NA NA Matsumura K , et al. (2020)
Maternal behavior NA Not reported NA NA Matsumura K , et al. (2020)
Molecular profile NA Not reported NA NA Matsumura K , et al. (2020)

M_POGZ_4_KO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Crispr/cas9 and sgrnas targeting was used to ablate exons 1 and 6 (10kb) of pogz resulting in a premature stop codon.

Allele Type: Knockout
Strain of Origin: C57BL6/J
Genetic Background: C57BL6/J

Es cell line: NA
Model Source: Rubenstein Lab
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity: Ambulatory activity No change Elevated plus maze test 5 weeks Cunniff MM et al. (2020)
Neurophysiology Synaptic transmission: excitatory Decreased Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Synaptic transmission Abnormal Optogenetics 5 weeks Cunniff MM et al. (2020)
Neurophysiology Presynaptic function: paired-pulse facilitation Decreased Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Network excitability Decreased In vivo local field potential (LFP) recordings 5 weeks Cunniff MM et al. (2020)
Neurophysiology Membrane potential No change Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Local field potential Decreased In vivo local field potential (LFP) recordings 5 weeks Cunniff MM et al. (2020)
Neurophysiology Intrinsic membrane properties No change Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Decay kinetics of evoked post synaptic currents Decreased Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Action potential property: threshold Increased Whole-cell current clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Action potential property: half-width No change Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Neurophysiology Action potential property: firing rate No change Whole-cell patch clamp 5 weeks Cunniff MM et al. (2020)
Repetitive behavior Repetitive digging No change Marble-burying test 5 weeks Cunniff MM et al. (2020)
Repetitive behavior Head bobbing Increased Elevated plus maze test 5 weeks Cunniff MM et al. (2020)
Social behavior Social interaction: with juveniles No change Reciprocal social interaction test 5 weeks Cunniff MM et al. (2020)
Emotion Exploratory activity No change Novel object exploration test 5 weeks Cunniff MM et al. (2020)
Emotion Anxiety Decreased Elevated plus maze test 5 weeks Cunniff MM et al. (2020)
Learning & memory Reward reinforced choice behavior No change Operant self-learning paradigm 5 weeks Cunniff MM et al. (2020)
Learning & memory Cognitive flexibility: Associative learning No change Operant self-learning paradigm 5 weeks Cunniff MM et al. (2020)
Molecular profile Targeted expression Decreased Western blot P28 Cunniff MM et al. (2020)

M_POGZ_5_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Exons 13-19, which encode the CENPB and DDE domains and a portion of the zinc finger region of the Pogz protein, were flanked by a loxP site at the 5′ end and a FRT-NeoFRT-loxP cassette on the 3′ end. To delete the neo cassette from the line, Pogz neo/neo mice were crossed with B-actin-flp mice to produce Pogz f/+ mice. These were subsequently crossed to B-actin-cre mice to produce heterozygous Pogz mice which were crossed to obtain homozygotes.

Allele Type: knockout
Strain of Origin: -
Genetic Background: C57BL/6

Es cell line: CJ7
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Developmental profile Mortality/lethality: embryonic: incomplete penetrance increased General observations E10.5-16.5 Gudmundsdottir B et al. (2018)
Other POGZ Rescue Models(3 Models)
M_POGZ_2_KI_HT_Q1038R 1 Genetic Pharmaceutical NBQX
M_POGZ_2_KI_HT_Q1038R 1 Genetic Pharmaceutical Oxytocin
M_POGZ_2_KI_HT_Q1038R 1 Genetic Pharmaceutical Perampanel
CNVs associated with POGZ(1 Models)
1q21.3 23 Deletion-Duplication 33  /  93
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