Genetic Mouse Models / CUL3

CUL3 cullin 3

Model Species
Mus musculus
Gene Aliases
KIAA0617
Reports
4
Associated Human Genes
CUL3
Models / Rescue Models
15 / 4
Rescue Model
-
Model Summary

Cul3 null mice are embryonic lethal and the abnormalies start at E6.5. Cells in extraembryonic ectoderm and ectoplacental cone exhibit prolonged S phase in cell cycle, which supports that Cul3 might regulate the turnover of Cycline E. Cul3 hets have abnormal cardiovescular function, renal function, and hyperkalaemia.

Reports related to CUL3 (4 Reports)
# Type Title Author, Year
1 - Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells. Singer JD , et al. (1999)
2 - Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia. Schumacher FR , et al. (2015)
3 Additional Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3. Rapanelli M , et al. (2019)
4 Additional CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance Through the Promotion of Cap-Dependent Translation </title> ()
Show all Construct Details Show all Phenotypic Profiles

M_CUL3_10_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Mice with selective deletion of Cul3 exons 4 to 7 in the pyramidal neurons of the dorsal telencephalon, neocortex, and hippocampus were generated by crossing conditional ready Cul3 mice (Jackson Laboratory stock no 028349) with heterozygous Nex Cre transgenic mice where Cre expression begins at embryonic day 11.5.

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

Es cell line: -
Model Source: Jackson laboratory; Dr. Klaus-Armin Nave, Max Planck Institute (Goebbels et al., 2006, PMID 17146780 ) (Nex-Cre)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype General locomotor activity: ambulatory activity No change Open field test P60-p80 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-cox staining P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Golgi-cox staining P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length No change Golgi-cox staining P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Measurement of tissue weight P14 ()
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current frequency: excitatory Increased Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell current clamp P60 ()
Neurophysiology Membrane potential No change Whole-cell current clamp P60 ()
Neurophysiology Epsp-spike relationship Increased Whole-cell current clamp P60 ()
Repetitive behavior NA Not reported NA NA ()
Seizure NA Not reported NA NA ()
Sensory NA Not reported NA NA ()
Social behavior Social memory Decreased Three-chamber social approach test P60-p80 ()
Social behavior Social approach Decreased Three-chamber social approach test P60-p80 ()
Communications NA Not reported NA NA ()
Developmental profile Mortality/lethality No change Kaplan-meier survival curve P0-p40 ()
Emotion Anxiety Increased Open field test P60-p80 ()
Emotion Anxiety Increased Elevated plus maze test P60-p80 ()
Immune response NA Not reported NA NA ()
Learning & memory NA Not reported NA NA ()
Maternal behavior NA Not reported NA NA ()
Molecular profile Targeted expression Decreased Western blot P14 ()

M_CUL3_10_CKO_HT_VHIPP_INACT

Model Type: RESCUE-Genetic
Model Genotype: Heterozygous

Mutation:

Activity of ventral hippocampal (vHPC) pyramidal cells of adult Nex-Cre Cul3 het CKO mutant mice was reduced by a DREADD (designer receptors exclusively activated by designer drugs) chemical genetic approach where mice were bilaterally injected with the virus AAV1-DIO-hM4Di:mCherry, which expressed hM4Di in a Cre-dependent manner followed by 2 mg/kg intraperitoneal clozapine-N-oxide injection to inhibit neurons by Gi-dependent activation of inward potassium channels. Controls were injected with the control virus, AAV1-DIO-mCherry.

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

Es cell line: -
Model Source: Jackson laboratory; Dr. Klaus-Armin Nave, Max Planck Institute (Goebbels et al., 2006, PMID 17146780 ) (Nex-Cre)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype General locomotor activity: ambulatory activity No adverse effect Open field test P60 ()
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA ()
Neurophysiology Membrane potential Side effect Whole-cell current clamp P60 ()
Neurophysiology Epsp-spike relationship Restored Whole-cell current clamp P60 ()
Repetitive behavior NA Not reported NA NA ()
Seizure NA Not reported NA NA ()
Sensory NA Not reported NA NA ()
Social behavior NA Not reported NA NA ()
Communications NA Not reported NA NA ()
Developmental profile NA Not reported NA NA ()
Emotion Anxiety Restored Elevated plus maze test P60 ()
Emotion Anxiety Restored Open field test P60 ()
Immune response NA Not reported NA NA ()
Learning & memory NA Not reported NA NA ()
Maternal behavior NA Not reported NA NA ()
Molecular profile NA Not reported NA NA ()

M_CUL3_11_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Mice with selective deletion of Cul3 exons 4 to 7 in the pyramidal neurons of the dorsal telencephalon, neocortex, and hippocampus were generated by crossing conditional ready Cul3 mice (Jackson Laboratory stock no 028349) with heterozygous Nex Cre transgenic mice where Cre expression begins at embryonic day 11.5.

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

Es cell line: -
Model Source: Jackson laboratory; Dr. Klaus-Armin Nave, Max Planck Institute (Goebbels et al., 2006, PMID 17146780 ) (Nex-Cre)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype NA Not reported NA NA ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology Abnormal Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum Decreased Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Abnormal Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Measurement of tissue weight P14 ()
Neurophysiology NA Not reported NA NA ()
Repetitive behavior NA Not reported NA NA ()
Seizure NA Not reported NA NA ()
Sensory NA Not reported NA NA ()
Social behavior NA Not reported NA NA ()
Communications NA Not reported NA NA ()
Developmental profile Mortality/lethality Increased Kaplan-meier survival curve P0-p21 ()
Emotion NA Not reported NA NA ()
Immune response NA Not reported NA NA ()
Learning & memory NA Not reported NA NA ()
Maternal behavior NA Not reported NA NA ()
Molecular profile Targeted expression Decreased Western blot P14 ()

M_CUL3_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Exon 9 of Cullin3, flanked by flippase-recognition target (FRT) sites, was removed by Flp recombinase, which resulted in Cul3 (amino acids 403-459) truncated product.

Allele Type: Targeted (knockin)
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6J

Es cell line: Not specified
Model Source: Taconic
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Schumacher FR , et al. (2015)
Circadian sleep/wake cycle NA Not reported NA NA Schumacher FR , et al. (2015)
Motor phenotype NA Not reported NA NA Schumacher FR , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Schumacher FR , et al. (2015)
Neurophysiology NA Not reported NA NA Schumacher FR , et al. (2015)
Repetitive behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Seizure NA Not reported NA NA Schumacher FR , et al. (2015)
Sensory NA Not reported NA NA Schumacher FR , et al. (2015)
Social behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Communications NA Not reported NA NA Schumacher FR , et al. (2015)
Developmental profile Mortality/lethality Increased General observations P1 Schumacher FR , et al. (2015)
Emotion NA Not reported NA NA Schumacher FR , et al. (2015)
Immune response NA Not reported NA NA Schumacher FR , et al. (2015)
Learning & memory NA Not reported NA NA Schumacher FR , et al. (2015)
Maternal behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Molecular profile NA Not reported NA NA Schumacher FR , et al. (2015)

M_CUL3_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Exon 9 of Cullin3, flanked by flippase-recognition target (FRT) sites, was removed by Flp recombinase, which resulted in Cul3 (amino acids 403-459) truncated product.

Allele Type: Targeted (knockin)
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6J

Es cell line: Not specified
Model Source: Taconic
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Renal function Decreased Urine/blood electrolyte analysis Unreported Schumacher FR , et al. (2015)
Physiological parameters NA Not reported NA NA Schumacher FR , et al. (2015)
Physiological parameters Muscle fiber contraction Increased In vivo vasoconstrictor response assay Unreported Schumacher FR , et al. (2015)
Physiological parameters Hormone levels Increased Blood chemistry Unreported Schumacher FR , et al. (2015)
Circadian sleep/wake cycle NA Not reported NA NA Schumacher FR , et al. (2015)
Motor phenotype NA Not reported NA NA Schumacher FR , et al. (2015)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Schumacher FR , et al. (2015)
Neurophysiology NA Not reported NA NA Schumacher FR , et al. (2015)
Repetitive behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Seizure NA Not reported NA NA Schumacher FR , et al. (2015)
Sensory NA Not reported NA NA Schumacher FR , et al. (2015)
Social behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Communications NA Not reported NA NA Schumacher FR , et al. (2015)
Developmental profile Size/growth Decreased Voxel based morphometry Unreported Schumacher FR , et al. (2015)
Developmental profile Cardiovascular development and function Decreased Voxel based morphometry Unreported Schumacher FR , et al. (2015)
Developmental profile Cardiovascular development and function Decreased Blood pressure measurement Unreported Schumacher FR , et al. (2015)
Emotion NA Not reported NA NA Schumacher FR , et al. (2015)
Immune response NA Not reported NA NA Schumacher FR , et al. (2015)
Learning & memory NA Not reported NA NA Schumacher FR , et al. (2015)
Maternal behavior NA Not reported NA NA Schumacher FR , et al. (2015)
Molecular profile Targeted expression Decreased Western blot Unreported Schumacher FR , et al. (2015)
Molecular profile Signaling Increased Western blot Unreported Schumacher FR , et al. (2015)
Molecular profile Protein expression: in situ protein expression Abnormal Immunostaining Unreported Schumacher FR , et al. (2015)
Molecular profile Protein expression: in situ protein expression No change Immunostaining Unreported Schumacher FR , et al. (2015)
Molecular profile Protein expression level evidence No change Western blot Unreported Schumacher FR , et al. (2015)
Molecular profile Protein expression level evidence Increased Immunostaining Unreported Schumacher FR , et al. (2015)

M_CUL3_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Exon sequence corresponding to amino acids 127-293 of Cul3 was deleted and replaced with neomycin gene driven by the PGK promoter, which resulted in a null allele.

Allele Type: Targeted (knockout)
Strain of Origin: Not specified
Genetic Background: C57/B6J; 129/Sv

Es cell line: 129/Sv
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Singer JD , et al. (1999)
Circadian sleep/wake cycle NA Not reported NA NA Singer JD , et al. (1999)
Motor phenotype NA Not reported NA NA Singer JD , et al. (1999)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Singer JD , et al. (1999)
Neurophysiology NA Not reported NA NA Singer JD , et al. (1999)
Repetitive behavior NA Not reported NA NA Singer JD , et al. (1999)
Seizure NA Not reported NA NA Singer JD , et al. (1999)
Sensory NA Not reported NA NA Singer JD , et al. (1999)
Social behavior NA Not reported NA NA Singer JD , et al. (1999)
Communications NA Not reported NA NA Singer JD , et al. (1999)
Developmental profile Size/growth Decreased Immunostaining E6.5-e7.5 Singer JD , et al. (1999)
Developmental profile Mortality/lethality: embryonic Increased General observations P1 Singer JD , et al. (1999)
Emotion NA Not reported NA NA Singer JD , et al. (1999)
Immune response NA Not reported NA NA Singer JD , et al. (1999)
Learning & memory NA Not reported NA NA Singer JD , et al. (1999)
Maternal behavior NA Not reported NA NA Singer JD , et al. (1999)
Molecular profile Protein expression: in situ protein expression Increased Immunostaining E7.5 Singer JD , et al. (1999)
Molecular profile Cell proliferation Abnormal Immunostaining E7.5 Singer JD , et al. (1999)

M_CUL3_4_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Cul3^flox/fox mice from Jackson Laboratory (stock no.: 028349) with exons 4 to 7 flanked by loxp sites were bred with Emx1-IRES-Cre knockin mice (stock no.: 005628) to generate forebrain-specific Cul3 heterozygous knockout mice (Emx1Cre/+; Cul3^f/+ or Cul3^f/) converting a hypomorphic allele to a null allele after Cre recombination. Emx1 directs Cul3 KO in cortical excitatory glutamatergic neurons, but not inhibitory GABAergic interneurons, and other forebrain structures, including the hippocampus and amygdala.

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype Motor learning No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity Increased Open field test 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: nmda receptors Decreased Western blot 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine morphology Decreased Golgi-cox staining 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Decreased Golgi-cox staining 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Golgi-cox staining 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length No change Golgi-cox staining 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cytoskeletal organization: neuronal No change Immunostaining 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Ameliorated 16s rrna gene sequence analysis for identification of bacteria P6 Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Gross necroscopy P6 Rapanelli M , et al. (2019)
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse depression (ppd) Decreased Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Miniature post synaptic current amplitude: excitatory Decreased Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Membrane potential No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Epsp-spike relationship No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Decay kinetics of miniature post synaptic currents No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments 6 weeks Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory Sensorimotor gating Decreased Prepulse inhibition 6 weeks Rapanelli M , et al. (2019)
Social behavior Social memory Decreased Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Social behavior Social interaction Decreased Reciprocal social interaction test 6 weeks Rapanelli M , et al. (2019)
Social behavior Social approach Decreased Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile Size/growth No change Body weight measurement P6, 5 weeks Rapanelli M , et al. (2019)
Developmental profile Mortality/lethality No change General observations 6-7 weeks Rapanelli M , et al. (2019)
Emotion Anxiety No change Open field test 6 weeks Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Immunostaining 6 weeks Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Western blot 6 weeks Rapanelli M , et al. (2019)
Molecular profile Protein expression level evidence No change Western blot 6 weeks Rapanelli M , et al. (2019)
Molecular profile Protein expression level evidence Increased Western blot 6 weeks Rapanelli M , et al. (2019)
Molecular profile Protein expression level evidence Abnormal Liquid chromatography-mass spectrometry (lc-ms) 6 weeks Rapanelli M , et al. (2019)
Molecular profile Gene expression No change Semi-quantitative pcr (qrt-pcr) 6 weeks Rapanelli M , et al. (2019)
Molecular profile Dna methylation Increased Western blot 6 weeks Rapanelli M , et al. (2019)

M_CUL3_4_CKO_HT_BCI-121

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Mice with forebrain specific deletion of Cul3 were systemically administered BCI-121 (1 mg/kg, i.p., once daily for 3 days).

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype NA Not reported NA NA Rapanelli M , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Rapanelli M , et al. (2019)
Neurophysiology Synaptic transmission: excitatory Restored Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse depression (ppd) Refractory Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Repetitive behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory NA Not reported NA NA Rapanelli M , et al. (2019)
Social behavior Social memory Restored Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Social behavior Social approach Restored Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile NA Not reported NA NA Rapanelli M , et al. (2019)
Emotion NA Not reported NA NA Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile Dna methylation Restored Western blot 6 weeks Rapanelli M , et al. (2019)

M_CUL3_4_CKO_HT_SMYD3-KD

Model Type: RESCUE-Genetic
Model Genotype: Heterozygous

Mutation:

Mice with forebrain specific deletion of Cul3 were injected with lentiviral particles containing a shRNA sequence against Smyd3 to knock down Smyd3 expression in the PFC. Controls were injected with a scrambled control shRNA.

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype NA Not reported NA NA Rapanelli M , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse facilitation No adverse effect Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Epsp-spike relationship Restored Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Repetitive behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory NA Not reported NA NA Rapanelli M , et al. (2019)
Social behavior Social memory Restored Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Social behavior Social approach Restored Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile NA Not reported NA NA Rapanelli M , et al. (2019)
Emotion NA Not reported NA NA Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile Gene expression Side effect Semi-quantitative pcr (qrt-pcr) 6 weeks Rapanelli M , et al. (2019)

M_CUL3_5_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Cul3^flox/fox mice from Jackson Laboratory (stock no.: 028349) with exons 4 to 7 flanked by loxp sites were bred with Emx1-IRES-Cre knockin mice (stock no.: 005628) to generate forebrain-specific Cul3 homozygous knockout mice, converting a hypomorphic allele to a null allele after Cre recombination. Emx1 directs Cul3 KO in cortical excitatory glutamatergic neurons, but not inhibitory GABAergic interneurons, and other forebrain structures, including the hippocampus and amygdala.

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype NA Not reported NA NA Rapanelli M , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Gross necroscopy P6 Rapanelli M , et al. (2019)
Neurophysiology NA Not reported NA NA Rapanelli M , et al. (2019)
Repetitive behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory NA Not reported NA NA Rapanelli M , et al. (2019)
Social behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile Size/growth No change Body weight measurement 5 weeks Rapanelli M , et al. (2019)
Developmental profile Size/growth Decreased Body weight measurement P6 Rapanelli M , et al. (2019)
Developmental profile Mortality/lethality Increased General observations P7 Rapanelli M , et al. (2019)
Emotion NA Not reported NA NA Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile NA Not reported NA NA Rapanelli M , et al. (2019)

M_CUL3_6_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Cul3^flox/fox mice were crossed with either AAV8-CaMKIIalpha-GFPCre or AAV8-CaMKIIalpha-GFP (control) in the PFC.

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype Motor learning No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Rapanelli M , et al. (2019)
Neurophysiology Synaptic transmission: excitatory Decreased Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Membrane potential No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Epsp-spike relationship No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments 6 weeks Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory Startle response: acoustic stimulus No change Acoustic startle reflex test 6 weeks Rapanelli M , et al. (2019)
Sensory Sensorimotor gating No change Prepulse inhibition 6 weeks Rapanelli M , et al. (2019)
Social behavior Social memory Decreased Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Social behavior Social approach Decreased Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile NA Not reported NA NA Rapanelli M , et al. (2019)
Emotion Anxiety No change Open field test 6 weeks Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Western blot 6 weeks Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Immunostaining 6 weeks Rapanelli M , et al. (2019)
Molecular profile Protein expression level evidence Abnormal Liquid chromatography-mass spectrometry (lc-ms) 6 weeks Rapanelli M , et al. (2019)

M_CUL3_7_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Cul3^flox/fox mice were stereotaxically injected bilaterally with either AAV8-CaMKIIa-GFPCre or AAV8-CaMKIIa-GFP (control) in the dorsal striatum.

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Rapanelli M , et al. (2019)
Circadian sleep/wake cycle NA Not reported NA NA Rapanelli M , et al. (2019)
Motor phenotype Motor learning No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 6 weeks Rapanelli M , et al. (2019)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 6 weeks Rapanelli M , et al. (2019)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Rapanelli M , et al. (2019)
Neurophysiology Spontaneous post synaptic event amplitude: inhibitory currents No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Neuronal activation Decreased Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Neurophysiology Action potential property: firing rate Decreased Whole-cell patch clamp 6 weeks Rapanelli M , et al. (2019)
Repetitive behavior Self grooming: perseveration Increased Grooming behavior assessments 6 weeks Rapanelli M , et al. (2019)
Seizure NA Not reported NA NA Rapanelli M , et al. (2019)
Sensory Startle response: acoustic stimulus No change Acoustic startle reflex test 6 weeks Rapanelli M , et al. (2019)
Sensory Sensorimotor gating No change Prepulse inhibition 6 weeks Rapanelli M , et al. (2019)
Social behavior Social approach No change Three-chamber social approach test 6 weeks Rapanelli M , et al. (2019)
Communications NA Not reported NA NA Rapanelli M , et al. (2019)
Developmental profile NA Not reported NA NA Rapanelli M , et al. (2019)
Emotion Anxiety No change Open field test 6 weeks Rapanelli M , et al. (2019)
Immune response NA Not reported NA NA Rapanelli M , et al. (2019)
Learning & memory NA Not reported NA NA Rapanelli M , et al. (2019)
Maternal behavior NA Not reported NA NA Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Immunostaining 6 weeks Rapanelli M , et al. (2019)
Molecular profile Targeted expression Decreased Western blot 6 weeks Rapanelli M , et al. (2019)
Molecular profile Protein expression level evidence Abnormal Liquid chromatography-mass spectrometry (lc-ms) 6 weeks Rapanelli M , et al. (2019)

M_CUL3_8_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Mice with selective deletion of Cul3 exons 4 to 7 in the central nervous system, including astrocytes, oligodendroglia, ependyma and some neurons were generated by crossing conditional ready Cul3 mice (Jackson Laboratory stock no 028349) with GFAP Cre transgenic mice (Jackson Laboratory stock no 004600).

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Reproductive function No change Kaplan-meier survival curve P0-p40 ()
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype Motor learning No change Accelerating rotarod test P60-p80 ()
Motor phenotype Motor coordination and balance No change Accelerating rotarod test P60-p80 ()
Motor phenotype General locomotor activity: ambulatory activity No change Open field test P60-p80 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Size of cerebral ventricles No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Post-synaptic density size: inhibitory synapses No change Immunohistochemistry P14-17 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number No change Immunohistochemistry P60 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-cox staining P60, p14-p17 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Golgi-cox staining P60 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length No change Golgi-cox staining P60 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Measurement of tissue weight P14 ()
Neurophysiology Presynaptic function: paired-pulse facilitation Decreased Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell current clamp P60, p15 ()
Neurophysiology Miniature post synaptic current frequency: excitatory Increased Whole-cell current clamp P60, p15 ()
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell current clamp P60, p15 ()
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell current clamp P60, p15 ()
Neurophysiology Membrane potential No change Whole-cell current clamp P60, p15 ()
Neurophysiology Epsp-spike relationship Increased Whole-cell current clamp P60, p15 ()
Neurophysiology Decay kinetics of miniature post synaptic currents Increased Whole-cell current clamp P60 ()
Neurophysiology Action potential property: firing rate Increased Whole-cell current clamp P60 ()
Repetitive behavior Stereotypy No change Y-maze test P60-p80 ()
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments P60-p80 ()
Seizure NA Not reported NA NA ()
Sensory Olfaction No change Buried food test P60-p80 ()
Social behavior Social memory Decreased Three-chamber social approach test P60-p80 ()
Social behavior Social approach Decreased Three-chamber social approach test P60-p80 ()
Communications NA Not reported NA NA ()
Developmental profile Size/growth No change Body weight measurement P14 ()
Developmental profile Mortality/lethality No change Kaplan-meier survival curve P0-p40 ()
Emotion Anxiety Increased Open field test P60-p80 ()
Emotion Anxiety Increased Elevated plus maze test P60-p80 ()
Immune response NA Not reported NA NA ()
Learning & memory Spatial working memory No change Y-maze test P60-p80 ()
Maternal behavior NA Not reported NA NA ()
Molecular profile Targeted expression Decreased Western blot P14 ()
Molecular profile Regulation of translation Abnormal Western blot P60 ()
Molecular profile Protein ubiquitination Decreased Western blot P14 ()
Molecular profile Protein expression level evidence Increased Western blot P60 ()
Molecular profile Protein expression level evidence Decreased Western blot P60 ()
Molecular profile Protein expression level evidence Abnormal Tandem mass tagging (tmt) P60 ()
Molecular profile Protein binding Increased Western blot P14 ()

M_CUL3_8_CKO_HT_4EGI-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Cap-dependent translation was inhibitted in GFAP-Cre Cul3 CKO het mice by intra cerebralventricular (i.c.v.) injection (50mM, bilateral, 0.5 mL daily, for 12 days) of 4EGI-1, an inhibitor of the eIF4E-eIF4G1 complex (Fan et al., 2010).

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype General locomotor activity: ambulatory activity No adverse effect Open field test P60 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-cox staining P60 ()
Neurophysiology Presynaptic function: paired-pulse facilitation Ameliorated Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current frequency: inhibitory Refractory Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current frequency: excitatory Restored Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current amplitude: inhibitory No adverse effect Whole-cell current clamp P60 ()
Neurophysiology Miniature post synaptic current amplitude: excitatory No adverse effect Whole-cell current clamp P60 ()
Neurophysiology Membrane potential No adverse effect Whole-cell current clamp P60 ()
Neurophysiology Epsp-spike relationship Refractory Whole-cell current clamp P60 ()
Neurophysiology Decay kinetics of miniature post synaptic currents Ameliorated Whole-cell current clamp P60 ()
Neurophysiology Action potential property: firing rate Restored Whole-cell current clamp P60 ()
Repetitive behavior NA Not reported NA NA ()
Seizure NA Not reported NA NA ()
Sensory NA Not reported NA NA ()
Social behavior Social memory Restored Three-chamber social approach test P60-p80 ()
Social behavior Social approach Restored Three-chamber social approach test P60-p80 ()
Communications NA Not reported NA NA ()
Developmental profile NA Not reported NA NA ()
Emotion Anxiety Refractory Elevated plus maze test P60 ()
Emotion Anxiety Refractory Open field test P60 ()
Immune response NA Not reported NA NA ()
Learning & memory NA Not reported NA NA ()
Maternal behavior NA Not reported NA NA ()
Molecular profile NA Not reported NA NA ()

M_CUL3_9_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Mice with selective deletion of Cul3 exons 4 to 7 in the central nervous system, including astrocytes, oligodendroglia, ependyma and some neurons were generated by crossing conditional ready Cul3 mice (Jackson Laboratory stock no 028349) with heterozygous GFAP Cre transgenic mice (Jackson Laboratory stock no 004600).

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

Es cell line: -
Model Source: Jackson laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA ()
Circadian sleep/wake cycle NA Not reported NA NA ()
Motor phenotype NA Not reported NA NA ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Size of cerebral ventricles Increased Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology and size of the corpus callosum Decreased Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Abnormal Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Decreased Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination Abnormal Histology P14 ()
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Measurement of tissue weight P14 ()
Neurophysiology NA Not reported NA NA ()
Repetitive behavior NA Not reported NA NA ()
Seizure NA Not reported NA NA ()
Sensory NA Not reported NA NA ()
Social behavior NA Not reported NA NA ()
Communications NA Not reported NA NA ()
Developmental profile Size/growth Decreased Body weight measurement P14 ()
Developmental profile Mortality/lethality Increased Kaplan-meier survival curve P0-p20 ()
Emotion NA Not reported NA NA ()
Immune response NA Not reported NA NA ()
Learning & memory NA Not reported NA NA ()
Maternal behavior NA Not reported NA NA ()
Molecular profile Targeted expression Decreased Western blot P14 ()
Molecular profile Regulation of translation Abnormal Western blot P14 ()
Molecular profile Protein expression level evidence Abnormal Tandem mass tagging (tmt) P14 ()
Other CUL3 Rescue Models(4 Models)
M_CUL3_4_CKO_HT 1 Genetic Pharmaceutical BCI-121
M_CUL3_4_CKO_HT 1 Genetic Genetic Smyd3 knockdown
M_CUL3_10_CKO_HT 1 Genetic Genetic Chemogenetic reduction in activity of ventral hippocampal pyramidal neurons
M_CUL3_8_CKO_HT 1 Genetic Pharmaceutical 4EGI-1
CNVs associated with CUL3(1 Models)
2q36.2 5 Deletion 7  /  13
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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