Genetic Mouse Models / POGZ

POGZ pogo transposable element derived with ZNF domain

Model Species
Mus musculus
Gene Aliases
9530006B08Rik
Reports
1
Associated Human Genes
POGZ
Models / Rescue Models
5 / 2
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 (1 Reports)
# Type Title Author, Year
1 Primary Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Matsumura K , et al. (2020)
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 - Not Reported - - Matsumura K , et al. (2020)
Motor phenotype - Not Reported - - 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 and specification in the brain 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 - Not Reported - - Matsumura K , et al. (2020)
Repetitive behavior - Not Reported - - Matsumura K , et al. (2020)
Seizure - Not Reported - - Matsumura K , et al. (2020)
Sensory - Not Reported - - Matsumura K , et al. (2020)
Social behavior - Not Reported - - Matsumura K , et al. (2020)
Communications - Not Reported - - Matsumura K , et al. (2020)
Developmental profile - Not Reported - - Matsumura K , et al. (2020)
Emotion - Not Reported - - Matsumura K , et al. (2020)
Homeostasis - Not Reported - - Matsumura K , et al. (2020)
Immune response - Not Reported - - Matsumura K , et al. (2020)
Learning & memory - Not Reported - - Matsumura K , et al. (2020)
Maternal behavior - Not Reported - - Matsumura K , et al. (2020)
Molecular profile - Not Reported - - 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 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 - Not Reported - - 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 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)
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)
Homeostasis - Not Reported - - Matsumura K , et al. (2020)
Immune response - Not Reported - - 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 - Not Reported - - 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 - Not Reported - - 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 - Not Reported - - Matsumura K , et al. (2020)
Neurophysiology - Not Reported - - Matsumura K , et al. (2020)
Repetitive behavior - Not Reported - - Matsumura K , et al. (2020)
Seizure - Not Reported - - Matsumura K , et al. (2020)
Sensory - Not Reported - - Matsumura K , et al. (2020)
Social behavior Social interaction Restored Reciprocal social interaction test 10 weeks Matsumura K , et al. (2020)
Communications - Not Reported - - Matsumura K , et al. (2020)
Developmental profile - Not Reported - - Matsumura K , et al. (2020)
Emotion - Not Reported - - Matsumura K , et al. (2020)
Homeostasis - Not Reported - - Matsumura K , et al. (2020)
Immune response - Not Reported - - Matsumura K , et al. (2020)
Learning & memory - Not Reported - - Matsumura K , et al. (2020)
Maternal behavior - Not Reported - - Matsumura K , et al. (2020)
Molecular profile - Not Reported - - Matsumura K , et al. (2020)

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 - Not Reported - - 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 - Not Reported - - Matsumura K , et al. (2020)
Neurophysiology - Not Reported - - Matsumura K , et al. (2020)
Repetitive behavior - Not Reported - - Matsumura K , et al. (2020)
Seizure - Not Reported - - Matsumura K , et al. (2020)
Sensory - Not Reported - - Matsumura K , et al. (2020)
Social behavior Social interaction Restored Reciprocal social interaction test 10 weeks Matsumura K , et al. (2020)
Communications - Not Reported - - Matsumura K , et al. (2020)
Developmental profile - Not Reported - - Matsumura K , et al. (2020)
Emotion - Not Reported - - Matsumura K , et al. (2020)
Homeostasis - Not Reported - - Matsumura K , et al. (2020)
Immune response - Not Reported - - Matsumura K , et al. (2020)
Learning & memory - Not Reported - - Matsumura K , et al. (2020)
Maternal behavior - Not Reported - - Matsumura K , et al. (2020)
Molecular profile - Not Reported - - 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 - Not Reported - - Matsumura K , et al. (2020)
Motor phenotype - Not Reported - - Matsumura K , et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Matsumura K , et al. (2020)
Neurophysiology - Not Reported - - Matsumura K , et al. (2020)
Repetitive behavior - Not Reported - - Matsumura K , et al. (2020)
Seizure - Not Reported - - Matsumura K , et al. (2020)
Sensory - Not Reported - - Matsumura K , et al. (2020)
Social behavior - Not Reported - - Matsumura K , et al. (2020)
Communications - Not Reported - - 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 - Not Reported - - Matsumura K , et al. (2020)
Homeostasis - Not Reported - - Matsumura K , et al. (2020)
Immune response - Not Reported - - Matsumura K , et al. (2020)
Learning & memory - Not Reported - - Matsumura K , et al. (2020)
Maternal behavior - Not Reported - - Matsumura K , et al. (2020)
Molecular profile - Not Reported - - Matsumura K , et al. (2020)
Other POGZ Rescue Models(2 Models)
M_POGZ_2_KI_HT_Q1038R 1 Genetic Pharmaceutical NBQX
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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