Genetic Mouse Models / AUTS2

AUTS2 AUTS2, activator of transcription and developmental regulator

Model Species
Mus musculus
Gene Aliases
2700063G02Rik; A730011F23Rik; D830032G16R
Reports
4
Associated Human Genes
-
Models / Rescue Models
21 / 6
Rescue Model
-
Model Summary

The conditional knock out ( both homozygous and heterozygous) mice, with Auts2 knocked out only in the brain, show reduced growth and size compared to wild type littermate controls and also display other anomalies during early development like, reduced instances of ultrasonic vocalizations and poor righting reflex.

External Links
Entrez GeneMouse Genome Informatics
Reports related to AUTS2 (4 Reports)
# Type Title Author, Year
1 Primary An AUTS2-Polycomb complex activates gene expression in the CNS. Gao Z , et al. (2014)
2 Additional Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis. Hori K , et al. (2014)
3 Additional AUTS2 Regulation of Synapses for Proper Synaptic Inputs and Social Communication Hori K et al. (2020)
4 Additional AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication Yamashiro K et al. (2020)
Show all Construct Details Show all Phenotypic Profiles

M_AUTS2_10_KO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

A loxp site was inserted upstream of exon 8 and a loxp site and a frt-flanked neomycin cassette were inserted downstream of exon 8 in opposite orientation. cre-mediated recombination removed exon 8 and the selection cassette in germline. the full-length protein is completely eliminated in homozygous brain, however expression of a short isoform (variant 2 with transcriptional start site in exon 9) is increased. (auts2^del8/del8)

Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal morphology: axonal structure Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No change Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Developmental profile Mortality/lethality: neonatal Increased Survival analysis P0 Hori K , et al. (2014)
Molecular profile Targeted expression Decreased Western blot E18.5 Hori K , et al. (2014)

M_AUTS2_11_KO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

A loxp site was inserted upstream of exon 8 and a loxp site and a frt-flanked neomycin cassette were inserted downstream of exon 8 in opposite orientation. immunohistochemistry indicates that both the full-length and shorter splicing variant (variant 1 with transcriptional start site in exon 7) proteins are almost completely eliminated in the brain of homozygotes. (auts2^neo/+)

Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Gross necroscopy E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain cytoarchitecture No change Histology E18.5 Hori K , et al. (2014)
Molecular profile Targeted expression Decreased Western blot E18.5 Hori K , et al. (2014)

M_AUTS2_12_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Mouse model of acute ko of austs2 at e14.5 was generated by electroporating cortical brain sections of auts2flox/flox mice with gfp and/or cre recombinase

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)

M_AUTS2_12_CKO_HM_RAC1

Model Type: RESCUE-Genetic
Model Genotype: Homozygous

Mutation:

Coexpression rac1-wt in mouse model of acute ko of austs2 at e14.5 generated by electroporating cortical brain sections of auts2flox/flox mice with gfp and/or cre recombinase

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Restored Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Ameliorated Immunohistochemistry E18.5 Hori K , et al. (2014)

M_AUTS2_13_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Cerebellum-selective auts2 conditional knockout (cko) mice were generated by crossing auts2 exon-8 floxed mice with engrailed1-cre mice leading to complete loss of full length and c-terminal shortform variant1 of auts2 and concomittant increase in c-terminal short isoform variant 2, in the rhombomere-1-derived brain area including the cerebellum from mid-embryonic stages (e9.5)

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

Es cell line: NA
Model Source: Hori et al., 2014; Kimmel et al., 2000; The Jackson Laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor learning Decreased Accelerating rotarod test 2-4 months Yamashiro K et al. (2020)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 2-4 months Yamashiro K et al. (2020)
Motor phenotype Motor coordination and balance Decreased Elevated plus maze test 2-4 months Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Excitatory Decreased Immunostaining P15, P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Purkinje cells Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: dopaminergic Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunostaining P7-P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining P16, P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Immunostaining P0 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic thickness Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Immunostaining P7-P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology: molecular layer thickness Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology: granule cell layer thickness Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Decreased Immunostaining P30 Yamashiro K et al. (2020)
Neurophysiology Neuron remodeling: Dendritic pruning Decreased Immunostaining P7-P30 Yamashiro K et al. (2020)
Neurophysiology Anatomical projections and connectivity: Purkinje cell-climbing fiber connections Abnormal Immunostaining P15, P30 Yamashiro K et al. (2020)
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus Decreased Monitoring ultrasonic vocalizations 8-15 weeks Yamashiro K et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement P10-P30 Yamashiro K et al. (2020)
Developmental profile Mortality/lethality No change General observations Adult Yamashiro K et al. (2020)
Molecular profile Targeted expression Abnormal Western blot P0 Yamashiro K et al. (2020)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) P0 Yamashiro K et al. (2020)
Molecular profile Signaling: hedgehog pathway No change Immunostaining P7 Yamashiro K et al. (2020)
Molecular profile Signaling: hedgehog pathway No change Quantitative PCR (qRT-PCR) P7 Yamashiro K et al. (2020)
Molecular profile Regulation of gene expression Decreased Quantitative PCR (qRT-PCR) P7 Yamashiro K et al. (2020)
Molecular profile Protein expression: In situ protein expression Decreased Immunostaining P10-P30 Yamashiro K et al. (2020)

M_AUTS2_14_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Cerebellum-selective auts2 conditional knockout (cko) mice were generated by crossing auts2 exon-8 floxed mice with engrailed1-cre mice leading to complete loss of full length and c-terminal shortform variant1 of auts2 and concomittant increase in c-terminal short isoform variant 2, in the rhombomere-1-derived brain area including the cerebellum from mid-embryonic stages (e9.5)

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

Es cell line: NA
Model Source: Hori et al., 2014; Kimmel et al., 2000; The Jackson Laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus Decreased Monitoring ultrasonic vocalizations 8-15 weeks Yamashiro K et al. (2020)

M_AUTS2_15_CKD

Model Type: Genetic LOF
Model Genotype: Wildtype

Mutation:

Pregnant c57bl/6 mice at e11.5 or e12.5 and plasmids were injected into the fourth ventricle with a vector expressing egfp and auts2-targeted microrna (mirna) driven by the pc-specific l7 promoter into pcs by in utero electroporation.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: NA
Model Source: Yamashiro et al, 2020
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neurophysiology Presynaptic function: paired-pulse facilitation Increased Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Presynaptic function: paired-pulse depression (PPD) No change Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: excitatory Increased Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: excitatory Increased Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology EPSP-spike relationship Increased Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Decay kinetics of evoked post synaptic currents Abnormal Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Neurophysiology Action potential property: firing pattern Abnormal Whole-cell patch clamp P20-P30 Yamashiro K et al. (2020)
Molecular profile Targeted expression Decreased Western blot Adult Yamashiro K et al. (2020)

M_AUTS2_1_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 7 of the Auts2 using Nestin-Cre, in neuronal, glial and other cell types in the central and peripheral nervous system

Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57Bl/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Gao Z , et al. (2014)
Motor phenotype Righting response Decreased Righting reflex test P3-p9 Gao Z , et al. (2014)
Motor phenotype Negative geotaxis Decreased Negative geotaxis test P3-p9 Gao Z , et al. (2014)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Gao Z , et al. (2014)
Neurophysiology NA Not reported NA NA Gao Z , et al. (2014)
Repetitive behavior NA Not reported NA NA Gao Z , et al. (2014)
Seizure NA Not reported NA NA Gao Z , et al. (2014)
Sensory NA Not reported NA NA Gao Z , et al. (2014)
Social behavior NA Not reported NA NA Gao Z , et al. (2014)
Physiological parameters NA Not reported NA NA Gao Z , et al. (2014)
Communications Ultrasonic vocalization Decreased Monitoring ultrasonic vocalizations P3-p9 Gao Z , et al. (2014)
Developmental profile Size/growth Decreased Body weight measurement P3-p9 Gao Z , et al. (2014)
Emotion NA Not reported NA NA Gao Z , et al. (2014)
Immune response NA Not reported NA NA Gao Z , et al. (2014)
Learning & memory NA Not reported NA NA Gao Z , et al. (2014)
Maternal behavior NA Not reported NA NA Gao Z , et al. (2014)
Molecular profile Gene expression Decreased Quantitative pcr (qrt-pcr) P1 Gao Z , et al. (2014)

M_AUTS2_1_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Conditional deletion of exon 7 of the Auts2 using Nestin-Cre, in neuronal, glial and other cell types in the central and peripheral nervous system, bred to homozygosity

Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: C57Bl/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle NA Not reported NA NA Gao Z , et al. (2014)
Motor phenotype Righting response Decreased Righting reflex test P3-p9 Gao Z , et al. (2014)
Motor phenotype Negative geotaxis Decreased Negative geotaxis test P3-p9 Gao Z , et al. (2014)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Gao Z , et al. (2014)
Neurophysiology NA Not reported NA NA Gao Z , et al. (2014)
Repetitive behavior NA Not reported NA NA Gao Z , et al. (2014)
Seizure NA Not reported NA NA Gao Z , et al. (2014)
Sensory NA Not reported NA NA Gao Z , et al. (2014)
Social behavior NA Not reported NA NA Gao Z , et al. (2014)
Physiological parameters NA Not reported NA NA Gao Z , et al. (2014)
Communications Ultrasonic vocalization Decreased Monitoring ultrasonic vocalizations P3-p9 Gao Z , et al. (2014)
Developmental profile Size/growth Decreased Body weight measurement P3-p9 Gao Z , et al. (2014)
Emotion NA Not reported NA NA Gao Z , et al. (2014)
Immune response NA Not reported NA NA Gao Z , et al. (2014)
Learning & memory NA Not reported NA NA Gao Z , et al. (2014)
Maternal behavior NA Not reported NA NA Gao Z , et al. (2014)
Molecular profile Gene expression Decreased Quantitative pcr (qrt-pcr) P1 Gao Z , et al. (2014)

M_AUTS2_2_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Forebrain-specific auts2 conditional ko mice (emx1cre/+;auts2-ex8^flox/flox) generated by crossing conditional-ready mice with exon 8 of auts2 floxed and emx1cre mice

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Inhibitory No change Immunohistochemistry P35 Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Excitatory Increased Immunohistochemistry P35 Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Immunohistochemistry Adult Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased - - et al. ()
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell voltage clamp P33-44 Hori K et al. (2020)
Neurophysiology Neuronal activation Increased Immunohistochemistry P33-44 Hori K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell voltage clamp P33-44 Hori K et al. (2020)
Neurophysiology Miniature post synaptic current frequency: excitatory Increased Whole-cell voltage clamp P33-44 Hori K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell voltage clamp P33-44 Hori K et al. (2020)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell voltage clamp P33-44 Hori K et al. (2020)
Molecular profile Targeted expression Abnormal Western blot P0 Hori K et al. (2020)
Molecular profile Differential gene expression Abnormal RNA sequencing 2 weeks Hori K et al. (2020)

M_AUTS2_3_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Forebrain-specific auts2 conditional ko mice (emx1cre/+;auts2flox/flox) generated by crossing conditional-ready mice with exon 8 of auts2 floxed and emx1cre mice

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Immunohistochemistry Adult Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased - - et al. ()

M_AUTS2_4_KO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Deletion of exon 8 of auts2

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity: Ambulatory activity Decreased Open field test 8-19 weeks Hori K et al. (2020)
Motor phenotype General locomotor activity No change General observations 8-19 weeks Hori K et al. (2020)
Motor phenotype General locomotor activity Decreased Open field test 8-19 weeks Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Immunohistochemistry Adult Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining 1 month, 3 months Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal morphology: axonal structure Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No change Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Sensory Visual placing reflex No change Visual placing test 8-19 weeks Hori K et al. (2020)
Sensory Touch No change Head twitch response 8-19 weeks Hori K et al. (2020)
Sensory Startle response: acoustic stimulus Increased Acoustic startle reflex test 8-19 weeks Hori K et al. (2020)
Sensory Sensorimotor gating Decreased Prepulse inhibition 8-19 weeks Hori K et al. (2020)
Sensory Pain or nociception Increased Foot shock test 8-19 weeks Hori K et al. (2020)
Sensory Olfaction No change Buried food test 8-19 weeks Hori K et al. (2020)
Social behavior Social interaction Decreased Reciprocal social interaction test 8-19 weeks Hori K et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 8-19 weeks Hori K et al. (2020)
Social behavior Social approach Decreased Three-chamber social approach test 8-19 weeks Hori K et al. (2020)
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus Decreased Monitoring ultrasonic vocalizations Adult Hori K et al. (2020)
Communications Ultrasonic vocalization Abnormal Spectrographic analysis of vocalization recordings Adult Hori K et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement 3 months Hori K et al. (2020)
Developmental profile General characteristics No change General observations Adult Hori K et al. (2020)
Emotion Thigmotaxis No change Novel cage test 8-19 weeks Hori K et al. (2020)
Emotion Anxiety No change Open field test 8-19 weeks Hori K et al. (2020)
Emotion Anxiety Decreased Elevated plus maze test 8-19 weeks Hori K et al. (2020)
Learning & memory Object recognition memory Decreased Novel object recognition test 8-19 weeks Hori K et al. (2020)
Learning & memory Cued or contextual fear conditioning: Memory of cue No change Fear conditioning test 8-19 weeks Hori K et al. (2020)
Learning & memory Cued or contextual fear conditioning: Memory of context No change Fear conditioning test 8-19 weeks Hori K et al. (2020)
Molecular profile Targeted expression Decreased Western blot E18.5 Hori K , et al. (2014)

M_AUTS2_5_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Camkiia-creert2 mice on a mixed c57bl6n/fvb background were crossed with auts2 floxed mice to generate camkiia-creert2;auts2^flox/+ mice which were in turn crossed to generate camkiia-creert2;auts2^flox/flox mice.tamoxifen was administered at 50 mg/kg during p21-25 days for anatomical analysis at p50. rosa26ryfp reporter allele was used to confirm cre recombination.

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype General locomotor activity No change General observations Adult Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Abnormal Golgi-Cox staining 6.5 weeks Hori K et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining 6.5 weeks Hori K et al. (2020)
Developmental profile General characteristics No change General observations Adult Hori K et al. (2020)
Molecular profile Targeted expression Decreased In situ hybridization (ISH) 6.5 weeks Hori K et al. (2020)
Molecular profile Targeted expression Decreased Polymerase chain reaction (PCR) 6.5 weeks Hori K et al. (2020)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) 6.5 weeks Hori K et al. (2020)

M_AUTS2_6_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Camkiia-creert2 mice on a mixed c57bl6n/fvb background were crossed with auts2 floxed mice to generate camkiia-creert2;auts2^flox/+ mice which were in turn crossed to generate camkiia-creert2;auts2^flox/flox mice in which exon 8 of auts2 can be ablated in the forebrain projection neurons by tamoxifen administration. tamoxifen was administered at p30-34 for behavioral analyses by intraperitoneal injection twice daily for 5 consecutive days and the analyses were performed at 10-12 weeks.

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Sensory Visual placing reflex No change Visual placing test 10-12 weeks Hori K et al. (2020)
Sensory Touch No change Head twitch response 10-12 weeks Hori K et al. (2020)
Sensory Olfaction No change Buried food test 10-12 weeks Hori K et al. (2020)
Social behavior Social interaction Decreased Reciprocal social interaction test 10-12 weeks Hori K et al. (2020)
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus Decreased Monitoring ultrasonic vocalizations 10-12 weeks Hori K et al. (2020)
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus Decreased Monitoring ultrasonic vocalizations Adult Hori K et al. (2020)

M_AUTS2_7_KD

Model Type: Genetic LOF
Model Genotype: Wildtype

Mutation:

Shrna constructs targeting fl-auts2 mrna and gfp expression vectors were cointroduced into mouse embryonic brains by in utero electroporation at e15.5, and dissociated cortical neurons were prepared at e16.5 and cultured for div2 to div6. co-electroporation and expression of the shrna-resistant auts2 (fl-auts2r) was used as control.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Immunohistochemistry E16.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Immunohistochemistry E16.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Abnormal Immunohistochemistry E16.5 Hori K , et al. (2014)
Molecular profile Targeted expression Decreased Western blot E16.5 Hori K , et al. (2014)

M_AUTS2_7_KD_CDC42

Model Type: RESCUE-Genetic
Model Genotype: Wildtype

Mutation:

Sirna for cdc42 was co-electroporated with shrna constructs targeting fl-auts2 mrna and gfp expression vectors into mouse embryonic brains at e15.5, and dissociated cortical neurons were prepared at e16.5 and cultured for div2 to div6.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Restored Immunohistochemistry E16.5 Hori K , et al. (2014)

M_AUTS2_7_KD_ITSN1

Model Type: RESCUE-Genetic
Model Genotype: Wildtype

Mutation:

Sirna for itsn1 was co-electroporated with shrna constructs targeting fl-auts2 mrna and gfp expression vectors into mouse embryonic brains at e15.5, and dissociated cortical neurons were prepared at e16.5 and cultured for div2 to div6.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Restored Immunohistochemistry E16.5 Hori K , et al. (2014)

M_AUTS2_7_KD_ITSN2

Model Type: RESCUE-Genetic
Model Genotype: Wildtype

Mutation:

Sirna for itsn2 was co-electroporated with shrna constructs targeting fl-auts2 mrna and gfp expression vectors into mouse embryonic brains at e15.5, and dissociated cortical neurons were prepared at e16.5 and cultured for div2 to div6.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Restored Immunohistochemistry E16.5 Hori K , et al. (2014)

M_AUTS2_7_KD_RAC1

Model Type: RESCUE-Genetic
Model Genotype: Wildtype

Mutation:

Wildtype rac1 was co-electroporated with shrna constructs targeting fl-auts2 mrna and gfp expression vectors into mouse embryonic brains at e15.5, and dissociated cortical neurons were prepared at e16.5 and cultured for div2 to div6.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Restored Immunohistochemistry E16.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Restored Immunohistochemistry E16.5 Hori K , et al. (2014)

M_AUTS2_8_KD

Model Type: Genetic LOF
Model Genotype: Wildtype

Mutation:

Shrna constructs targeting fl-auts2 mrna and gfp expression vectors were cointroduced into mouse embryonic cerebral cortices by in utero electroporation at e14.5. co-electroporation and expression of the shrna-resistant auts2 (fl-auts2r) and shrna-resistant cytoplastically localized auts2 (nes-fl-auts2r) were used as control.

Allele Type: Wildtype
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal morphology Abnormal Immunohistochemistry E17.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Abnormal Immunohistochemistry P0 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination Decreased Immunohistochemistry P0 Hori K , et al. (2014)
Neurophysiology Neuronal apoptosis No change Immunohistochemistry E17.5 Hori K , et al. (2014)
Molecular profile Protein expression: In situ protein expression Decreased Immunohistochemistry E17.5 Hori K , et al. (2014)

M_AUTS2_9_KO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

A loxp site was inserted upstream of exon 8 and a loxp site and a frt-flanked neomycin cassette were inserted downstream of exon 8 in opposite orientation. immunohistochemistry indicates that both the full-length and shorter splicing variant (variant 1 with transcriptional start site in exon 7) proteins are almost completely eliminated in the brain of homozygotes. (auts2^neo/neo)

Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal migration Decreased Immunohistochemistry E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Immunohistochemistry E15.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Gross necroscopy E18.5 Hori K , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain cytoarchitecture No change Histology E18.5 Hori K , et al. (2014)
Developmental profile Mortality/lethality: neonatal Increased Survival analysis P0 Hori K , et al. (2014)
Molecular profile Targeted expression Decreased Immunostaining E13.5 Yamashiro K et al. (2020)
Molecular profile Targeted expression Decreased Western blot E18.5 Hori K , et al. (2014)
Other AUTS2 Rescue Models(6 Models)
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M_AUTS2_1_CKO_HM 1 Genetic Pharmaceutical Rapamycin
M_AUTS2_12_CKO_HM 1 Genetic LOF Genetic RAC1 expression
M_AUTS2_7_KD 1 Genetic LOF Genetic CDC42 suppression
M_AUTS2_7_KD 1 Genetic LOF Genetic Itsn1 suppression
M_AUTS2_7_KD 1 Genetic LOF Genetic Itsn2 suppression
M_AUTS2_7_KD 1 Genetic LOF Genetic RAC1 expression
CNVs associated with AUTS2(1 Models)
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7q11.22 44 Deletion-Duplication 70  /  232
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