Genetic Mouse Models / TAOK2

TAOK2 TAO kinase 2

Model Species
Mus musculus
Gene Aliases
1110033K02Rik, B230344N16, MAP3K17, PSK, PSK1, TAO1, TAO2, mKIAA0881
Reports
2
Associated Human Genes
TAOK2
Models / Rescue Models
12 / 6
Rescue Model
-
Model Summary

C57BL6/J Taok2 HT and HM KO mice exhibit abnormal brain morphology, increased brain volume, reduced volume of somatosensory cortex, reduced cerebral cortex, abnormal morphology and size of the corpus callosum, increased ambulation, decreased anxiety, decreased social approach, decreased basal dendrite arborization in the PFC, abnormal spine morphology, decreased synapse number, decreased excitatory neurotransmission, and decreased RhoA activation (Richter M, et al, Mol. Psych., 2018).

Reports related to TAOK2 (2 Reports)
# Type Title Author, Year
1 Primary Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Richter M , et al. (2018)
2 Additional TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model Scharrenberg R et al. (2022)
Show all Construct Details Show all Phenotypic Profiles

M_TAOK2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Taok2 homozygous knockout mice were generated through Cre mediated deletion of lox P sites within the first and seventh introns of the Taok2 gene. C57BL/6Jtyrc-2Jmice carry a recessive point mutation in the tyrosinase gene resulting in a white coat color, allowing the distinction of targeted cells that confer a black coat color. .

Allele Type: knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL/6 * C57BL/6NTac * SJL

Es cell line: -
Model Source: MGI:5554941
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Richter M , et al. (2018)
Motor phenotype Swimming ability No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 2-2.5 months Richter M , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity No change Object-place recognition test 2-2.5 months Richter M , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity No change Three-chamber social approach test 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density Decreased Electron microscopy 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum No change Diffusion tensor imaging (dti) 1 week, 1 month, 4 months, 13 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum Decreased Diffusion tensor imaging (dti) 4 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No change Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination Decreased Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Magnetic resonance imaging (mri) 4 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Magnetic resonance imaging (mri) 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Magnetic resonance imaging (mri) 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Increased In vivo local field potential (lfp) recordings P8-10 Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: excitatory Decreased Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Local field potential No change In vivo local field potential (lfp) recordings P8-10 Richter M , et al. (2018)
Neurophysiology Local field potential Decreased In vivo local field potential (lfp) recordings P8-10 Richter M , et al. (2018)
Neurophysiology Intrinsic bursting events or spikes Increased In vivo local field potential (lfp) recordings P8-10 Richter M , et al. (2018)
Repetitive behavior NA Not reported NA NA Richter M , et al. (2018)
Seizure NA Not reported NA NA Richter M , et al. (2018)
Sensory NA Not reported NA NA Richter M , et al. (2018)
Social behavior Social approach Decreased Three-chamber social approach test 2-2.5 months Richter M , et al. (2018)
Physiological parameters NA Not reported NA NA Richter M , et al. (2018)
Communications NA Not reported NA NA Richter M , et al. (2018)
Developmental profile Size/growth Decreased Body weight measurement P7-10 Richter M , et al. (2018)
Emotion Thigmotaxis No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Emotion Exploratory activity: habituation Decreased Open field test 2-2.5 months Richter M , et al. (2018)
Emotion Anxiety Decreased Open field test 2-2.5 months Richter M , et al. (2018)
Emotion Anxiety Decreased Elevated plus maze test 2-2.5 months Richter M , et al. (2018)
Immune response NA Not reported NA NA Richter M , et al. (2018)
Learning & memory Swim distance No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial working memory Increased Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial working memory Decreased Y-maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial reference memory Increased Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial learning No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Object recognition memory Decreased Object-place recognition test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context: long term recall No change Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context: long term recall Decreased Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context Decreased Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Maternal behavior NA Not reported NA NA Richter M , et al. (2018)
Molecular profile Targeted expression Decreased Western blot 3 weeks Richter M , et al. (2018)
Molecular profile Protein expression level evidence Increased Western blot 2-2.5 months Richter M , et al. (2018)
Molecular profile Enzyme activity Decreased Western blot 2-2.5 months Richter M , et al. (2018)

M_TAOK2_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Taok2 heterozygous knockout mice were generated through Cre mediated deletion of lox P sites within the first and seventh introns of the Taok2 gene. C57BL/6Jtyrc-2Jmice carry a recessive point mutation in the tyrosinase gene resulting in a white coat color, allowing the distinction of targeted cells that confer a black coat color. .

Allele Type: knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL/6 * C57BL/6NTac * SJL

Es cell line: -
Model Source: MGI:5554941
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Richter M , et al. (2018)
Motor phenotype Swimming ability No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity No change Object-place recognition test 2-2.5 months Richter M , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum No change Diffusion tensor imaging (dti) 1 week, 1 month, 4 months, 13 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum Decreased Diffusion tensor imaging (dti) 4 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No change Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination Decreased Immunostaining 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Magnetic resonance imaging (mri) 2-2.5 months Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Magnetic resonance imaging (mri) 2-2.5 months Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: excitatory Decreased Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 3-4 weeks Richter M , et al. (2018)
Repetitive behavior NA Not reported NA NA Richter M , et al. (2018)
Seizure NA Not reported NA NA Richter M , et al. (2018)
Sensory NA Not reported NA NA Richter M , et al. (2018)
Social behavior Social approach No change Three-chamber social approach test 2-2.5 months Richter M , et al. (2018)
Physiological parameters NA Not reported NA NA Richter M , et al. (2018)
Communications NA Not reported NA NA Richter M , et al. (2018)
Developmental profile NA Not reported NA NA Richter M , et al. (2018)
Emotion Thigmotaxis No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Emotion Anxiety No change Elevated plus maze test 2-2.5 months Richter M , et al. (2018)
Emotion Anxiety Decreased Elevated plus maze test 2-2.5 months Richter M , et al. (2018)
Emotion Anxiety No change Open field test 2-2.5 months Richter M , et al. (2018)
Immune response NA Not reported NA NA Richter M , et al. (2018)
Learning & memory Swim distance No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial working memory No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial working memory No change Y-maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Spatial reference memory No change Morris water maze test 2-2.5 months Richter M , et al. (2018)
Learning & memory Object recognition memory No change Object-place recognition test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context: long term recall No change Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context: long term recall Decreased Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context Increased Fear conditioning test 2-2.5 months Richter M , et al. (2018)
Maternal behavior NA Not reported NA NA Richter M , et al. (2018)
Molecular profile Targeted expression Decreased Western blot 3 weeks Richter M , et al. (2018)
Molecular profile Protein phosphorylation Decreased Western blot 3 weeks Richter M , et al. (2018)

M_TAOK2_2_KO_HT_TAOK2AB-A135P

Model Type: RESCUE-Genetic
Model Genotype: Heterozygous

Mutation:

In utero electroporation of Venus-GFP together with TAOK2/ A135P (the patient possesses the mutation in both isoforms) in Taok2 Het mice. .

Allele Type: knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL/6 * C57BL/6NTac * SJL

Es cell line: -
Model Source: MGI:5554941
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Richter M , et al. (2018)
Motor phenotype NA Not reported NA NA Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic thickness Side effect Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neurophysiology NA Not reported NA NA Richter M , et al. (2018)
Repetitive behavior NA Not reported NA NA Richter M , et al. (2018)
Seizure NA Not reported NA NA Richter M , et al. (2018)
Sensory NA Not reported NA NA Richter M , et al. (2018)
Social behavior NA Not reported NA NA Richter M , et al. (2018)
Physiological parameters NA Not reported NA NA Richter M , et al. (2018)
Communications NA Not reported NA NA Richter M , et al. (2018)
Developmental profile NA Not reported NA NA Richter M , et al. (2018)
Emotion NA Not reported NA NA Richter M , et al. (2018)
Immune response NA Not reported NA NA Richter M , et al. (2018)
Learning & memory NA Not reported NA NA Richter M , et al. (2018)
Maternal behavior NA Not reported NA NA Richter M , et al. (2018)
Molecular profile NA Not reported NA NA Richter M , et al. (2018)

M_TAOK2_2_KO_HT_TAOK2B-P1022

Model Type: RESCUE-Genetic
Model Genotype: Heterozygous

Mutation:

In utero electroporation of Venus-GFP together with TAOK2 P1022* (the patient only expresses the mutation in the -isoform) in Taok2 Het mice. .

Allele Type: knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL/6 * C57BL/6NTac * SJL

Es cell line: -
Model Source: MGI:5554941
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Richter M , et al. (2018)
Motor phenotype NA Not reported NA NA Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Restored Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic thickness Side effect Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neurophysiology NA Not reported NA NA Richter M , et al. (2018)
Repetitive behavior NA Not reported NA NA Richter M , et al. (2018)
Seizure NA Not reported NA NA Richter M , et al. (2018)
Sensory NA Not reported NA NA Richter M , et al. (2018)
Social behavior NA Not reported NA NA Richter M , et al. (2018)
Physiological parameters NA Not reported NA NA Richter M , et al. (2018)
Communications NA Not reported NA NA Richter M , et al. (2018)
Developmental profile NA Not reported NA NA Richter M , et al. (2018)
Emotion NA Not reported NA NA Richter M , et al. (2018)
Immune response NA Not reported NA NA Richter M , et al. (2018)
Learning & memory NA Not reported NA NA Richter M , et al. (2018)
Maternal behavior NA Not reported NA NA Richter M , et al. (2018)
Molecular profile Targeted expression Refractory Western blot 2-2.5 months Richter M , et al. (2018)

M_TAOK2_2_KO_HT_WT-TAOK2AB

Model Type: RESCUE-Genetic
Model Genotype: Heterozygous

Mutation:

In utero electroporation of Venus-GFP together with WT TAOK2alpha/beta at E15 to transfect neural progenitor cells that produce layer 2/ 3 somatosensory cortical excitatory neurons. .

Allele Type: knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL/6 * C57BL/6NTac * SJL

Es cell line: -
Model Source: MGI:5554941
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Richter M , et al. (2018)
Motor phenotype NA Not reported NA NA Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Refractory Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Ameliorated Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic thickness Side effect Golgi-cox staining 3 weeks Richter M , et al. (2018)
Neurophysiology NA Not reported NA NA Richter M , et al. (2018)
Repetitive behavior NA Not reported NA NA Richter M , et al. (2018)
Seizure NA Not reported NA NA Richter M , et al. (2018)
Sensory NA Not reported NA NA Richter M , et al. (2018)
Social behavior NA Not reported NA NA Richter M , et al. (2018)
Physiological parameters NA Not reported NA NA Richter M , et al. (2018)
Communications NA Not reported NA NA Richter M , et al. (2018)
Developmental profile NA Not reported NA NA Richter M , et al. (2018)
Emotion NA Not reported NA NA Richter M , et al. (2018)
Immune response NA Not reported NA NA Richter M , et al. (2018)
Learning & memory NA Not reported NA NA Richter M , et al. (2018)
Maternal behavior NA Not reported NA NA Richter M , et al. (2018)
Molecular profile NA Not reported NA NA Richter M , et al. (2018)

M_TAOK2_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

A loxP site was inserted upstream of exon 2. An FRT- and loxP-flanked neomycin resistance cassette was inserted downstream of exon 7. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination removed exons 2 through 7.

Allele Type: Knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL6/J

Es cell line: PRX-B6N
Model Source: Kapfhammer
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy 3 weeks Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Time-lapse fluorescence microscopy E18 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy E18-E19 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology: size Decreased Magnetic resonance imaging (MRI) P8- 52 weeks Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Histology E18 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunohistochemistry 3, 16 weeks Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain cytoarchitecture No change Immunohistochemistry E16 Scharrenberg R et al. (2022)

M_TAOK2_3_KO_HM_MKK7-JNK1

Model Type: RESCUE-Genetic
Model Genotype: Homozygous

Mutation:

A constitutively active form of JNK1 (MKK7-JNK1) was introduced via in utero electroporation at E15 into cortices of Taok2 knockout mice cortices.

Allele Type: Knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL6/J

Es cell line: PRX-B6N
Model Source: Kapfhammer
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Restored Fluorescence microscopy E19 Scharrenberg R et al. (2022)

M_TAOK2_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

A loxP site was inserted upstream of exon 2. An FRT- and loxP-flanked neomycin resistance cassette was inserted downstream of exon 7. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination removed exons 2 through 7.

Allele Type: Knockout
Strain of Origin: C57BL/6NTac
Genetic Background: C57BL6/J

Es cell line: PRX-B6N
Model Source: Kapfhammer
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration No change Fluorescence microscopy 3 weeks Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Time-lapse fluorescence microscopy E18 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy E18-E19 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology: size Decreased Magnetic resonance imaging (MRI) P8- 52 weeks Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunohistochemistry 3, 16 weeks Scharrenberg R et al. (2022)

M_TAOK2_5_KD

Model Type: Genetic
Model Genotype: Wildtype

Mutation:

The Taok2 shRNA sequence was inserted into a pSilencer vector. A pSilencer vector containing a random sequence hairpin insert was used as a control for the shRNA. For acute Taok2 downregulation, mouse embryos were electroporated bilaterally in utero. The left hemisphere was electroporated at E15 with Taok2 shRNA and Venus plasmid, while the right hemisphere was electroporated with control shRNA together with mCherry plasmid.

Allele Type: Knockdown
Strain of Origin: -
Genetic Background: C57BL6/J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal morphology Abnormal Fluorescence microscopy E18-E19 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Time-lapse fluorescence microscopy E18 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy P7 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E16 Scharrenberg R et al. (2022)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy E18-E19 Scharrenberg R et al. (2022)

M_TAOK2_5_KD_MKK7-JNK1

Model Type: RESCUE-Genetic
Model Genotype: Wildtype

Mutation:

A constitutively active form of JNK1 (MKK7-JNK1) was introduced via in utero electroporation at E15 into cortices of wildtype cortices expressing Taok2 shRNA.

Allele Type: Knockdown
Strain of Origin: -
Genetic Background: C57BL6/J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Restored Fluorescence microscopy E19 Scharrenberg R et al. (2022)

M_TAOK2_6_KI_A135P

Model Type: Genetic
Model Genotype: Transgenic

Mutation:

Human-derived mutations in TAOK2 were generated by site-directed mutagenesis. cDNA sequences of wildtype or mutated TAOK2 were re-cloned into a recombinant adeno-associated virus (rAAV)-vector under control of a chicken beta-actin promoter (pCAGIG). TAOK2 mutation construct together with a Venus-expressing plasmid were introduced into cortical progenitor cells by in utero electroporation at E15 to analyze upper-layer neurons.

Allele Type: ASD mutation
Strain of Origin: -
Genetic Background: C57BL6/J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Fluorescence microscopy E19 Scharrenberg R et al. (2022)

M_TAOK2_6_KI_A135P_MKK7-JNK1

Model Type: RESCUE-Genetic
Model Genotype: Transgenic

Mutation:

A constitutively active form of JNK1 (MKK7-JNK1) was introduced via in utero electroporation at E15 into cortices of wildtype cortices expressing TAOK2alphaA135P and harvested transfected brains at E19.

Allele Type: ASD mutation
Strain of Origin: -
Genetic Background: C57BL6/J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Restored Fluorescence microscopy E19 Scharrenberg R et al. (2022)
Other TAOK2 Rescue Models(6 Models)
M_TAOK2_2_KO_HT 1 Genetic Genetic TAOK2ab-A135P
M_TAOK2_2_KO_HT 1 Genetic Genetic TAOK2b-P1022
M_TAOK2_2_KO_HT 1 Genetic Genetic WT-TAOK2ab
M_TAOK2_3_KO_HM 1 Genetic Genetic MKK7-JNK1
M_TAOK2_5_KD 1 Genetic Genetic MKK7-JNK1
M_TAOK2_6_KI_A135P 1 Genetic Genetic MKK7-JNK1
CNVs associated with TAOK2(1 Models)
16p11.2 139 Deletion-Duplication 206  /  1636
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