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Relevance to Autism

Overexpression of the KCTD13 gene in zebrafish resulted in induction of the microcephaly phenotype associated with 16p11.2 duplications, whereas suppression of KCTD13 expression resulted in the macrocephaly phenotype associated with 16p11.2 deletions (Golzio et al., 2012). An autistic proband with a de novo deletion including exons 3-5 of the KCTD13 gene was also identified in this report.

Molecular Function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PMID 19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PMID 19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
ASD
Support
Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.
SCZ
Support
Epilepsy/seizures
Support
Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features
ASD
SCZ
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Recent Recommendation
Kctd13 deletion reduces synaptic transmission via increased RhoA.
Recent Recommendation
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Recent Recommendation
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases.
Recent Recommendation
CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN363R001 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN363R002 
 synonymous_variant 
 c.6G>T 
 p.Ser2= 
 Unknown 
  
  
 GEN363R003 
 missense_variant 
 c.405G>A 
 p.Leu135= 
 Unknown 
 Not maternal 
 Multiplex 
 GEN363R004 
 missense_variant 
 c.256A>C 
 p.Ile86Leu 
 Familial 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
16
Deletion-Duplication
 139
  construct
16
Duplication
 4
 
16
Deletion
 1
 
16
Deletion
 1
 
16
Duplication
 15
 

Model Summary

KCTD13 knockout mice exhibit reduced synaptic transmission in the CA1 hippocampus, increased RhoA expression, and no effect on brain size or neurogenesis. RhoA inhibition rescues synaptic transmission in KCTD13 mutant mice (Escamilla CO, et. al., Nature, 2017).

References

Type
Title
Author, Year
Primary
Kctd13 deletion reduces synaptic transmission via increased RhoA.
Additional
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

M_KCTD13_1_HT_KO

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: One allele of Kctd13 was replaced entirely from the second reading frame to seventeenth base pair after stop codon of the gene, (total 16,080 bp).with a lacz-neo cassette. The neo positive selection marker was deleted using a germline Cre driver.
Allele Type: Knockout
Strain of Origin: C57BL/6NTac*c57BL/6*B6.C-Tg(CMV-Cre),Cgn/J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line: VGB6
Model Source: Knockout Mouse Project (KOMP) Repository, University of California, Davis (PMID 29088697)

M_KCTD13_2_HM_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Both alleles of Kctd13 were replaced entirely from the second reading frame to seventeenth base pair after stop codon of the gene, (total 16,080 bp).with a lacz-neo cassette. The neo positive selection marker was deleted using a germline Cre driver.
Allele Type: Knockout
Strain of Origin: C57BL/6NTac*c57BL/6*B6.C-Tg(CMV-Cre),Cgn/J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line: VGB6
Model Source: Knockout Mouse Project (KOMP) Repository, University of California, Davis (PMID 29088697)

M_KCTD13_3_HT_KO

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Kctd13 heterozygous mutants with deletion of exon 2 predicted to introduce a premature stop codon in exon 4 using CMV-Cre expressed ubiquitously.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N*B6.C-Tg(CMV-cre)1Cgn/J*C57BL/6J
ES Cell Line: G4 ES cells
Mutant ES Cell Line: G4 ES cells
Model Source: PMID 30590535; Jackson Laboratory

M_KCTD13_4_HM_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Kctd13 homozygous mutants with deletion of exon 2 predicted to introduce a premature stop codon in exon 4 using CMV-Cre expressed ubiquitously.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N*B6.C-Tg(CMV-cre)1Cgn/J*C57BL/6J
ES Cell Line: G4 ES cells
Mutant ES Cell Line: G4 ES cells
Model Source: PMID 30590535; Jackson Laboratory

M_KCTD13_5_HT_KO_MVP

Model Type: Genetic
Model Genotype: Multifactorial
Mutation: Mice with double heterozygous for deletion of Kctd13 and Mvp. Kctd13 heterozygous mutants with deletion of exon 2 predicted to introduce a premature stop codon in exon 4 using CMV-Cre expressed ubiquitously. Mvp heterozygous mutant mice were provided by Dr. Binnaz Yalcin, PMID 28965845. Construct details of Mvp allele are not specified.
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N*B6.C-Tg(CMV-cre)1Cgn/J*C57BL/6J
ES Cell Line: G4 ES cells
Mutant ES Cell Line: G4 ES cells
Model Source: PMID 30590535; Jackson Laboratory

M_KCTD13_6_HT_KO_LAT

Model Type: Genetic
Model Genotype: Multifactorial
Mutation: Mice double heterozygous for deletion of Kctd13 and Lat. Kctd13 heterozygous mutants with deletion of exon 2 predicted to introduce a premature stop codon in exon 4 using CMV-Cre expressed ubiquitously. Lat heterozygous mutant mice were generated by deletion of exons 1-8 encoding amino acids 1-169 of the mouse LAT (PMID 10204488, Dr. Weiguo Zhang).
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6N*B6.C-Tg(CMV-cre)1Cgn/J*C57BL/6J
ES Cell Line: G4 ES cells
Mutant ES Cell Line: G4 ES cells
Model Source: PMID 30590535; Jackson Laboratory

M_KCTD13_1_HT_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show increased locomotion compared to controls.
Exp Paradigm: NA
 Home cage behavior
 10-19 weeks
Dendritic architecture: dendritic length1
Decreased
Description: Mutants show reduction in dendritic length compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Dendritic architecture: spine density1
Decreased
Description: Mutants show reduction in dendritic spine density compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Dendritic architecture: dendritic tree complexity1
Decreased
Description: Mutants show reduction in dendritic tree complexity compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Miniature post synaptic current frequency: excitatory1
Decreased
Description: Mutants show decrease in mepsc frequency compared to controls.
Exp Paradigm: NA
 Whole-cell patch clamp
 P14-17
Local field potential1
Decreased
Description: Mutants show reduction of fepsp slope in extracellular recordings of field excitatory postsynaptic potentials (fepsps), compared to controls.
Exp Paradigm: NA
 In vivo local field potential (lfp) recordings
 4-6 weeks
Synaptic transmission1
Decreased
Description: Mutants show reduced synaptic transmission compared to controls.
Exp Paradigm: NA
 Whole-cell patch clamp
 P14-17
Miniature post synaptic current frequency: inhibitory1
Decreased
Description: Mutants show decreased mipsc frequency in the ca1 hippocampus compared to controls.
Exp Paradigm: NA
 Whole-cell patch clamp
 P14-17
Size/growth1
Decreased
Description: Mutants show a small decrease in body weight compared to controls.
Exp Paradigm: NA
 Body weight measurement
 12 weeks
Protein expression level evidence1
Increased
Description: Mutants show increased rhoa protein levels compared to controls. mutants show increased rhoa protein levels compared to controls, after p7, as per a developmental timecourse study.
Exp Paradigm: NA
 Western blot
 P18, 4-6 weeks
Targeted expression1
Decreased
Description: Mutants show about 50% reduction in kctd13 protein in various brain regions compared to controls.
Exp Paradigm: NA
 Western blot
 Not reported
Anxiety1
 No change
 Elevated plus maze test
 10-19 weeks
Anxiety1
 No change
 Light-dark exploration test
 10-19 weeks
Anxiety1
 No change
 Open field test
 10-19 weeks
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 10-19 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 10-19 weeks
Object recognition memory1
 No change
 Novel object recognition test
 10-19 weeks
Spatial learning1
 No change
 Morris water maze test
 10-19 weeks
Spatial reference memory1
 No change
 Morris water maze test
 10-19 weeks
Spatial working memory1
 No change
 Object-place recognition test
 10-19 weeks
Protein expression level evidence1
 No change
 Western blot
 E15; not reported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10-19 weeks
Swimming ability1
 No change
 Morris water maze test
 10-19 weeks
Brain size1
 No change
 Gross necroscopy
 12 weeks, p7
Brain size1
 No change
 Magnetic resonance imaging (mri)
 12 weeks, p7
Cell proliferation: neural precursors1
 No change
 Immunohistochemistry
 12 weeks, e15.5
Cortical lamination1
 No change
 Immunohistochemistry
 E15, 2.4 weeks
Decay kinetics of miniature post synaptic currents1
 No change
 Whole-cell patch clamp
 P14-17
Miniature post synaptic current amplitude: excitatory1
 No change
 Whole-cell patch clamp
 P14-17
Miniature post synaptic current amplitude: inhibitory1
 No change
 Whole-cell patch clamp
 P14-17
Presynaptic function: paired-pulse facilitation1
 No change
 Paired-pulse ratio
 P14-17
Repetitive digging1
 No change
 Marble-burying test
 10-19 weeks
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 10-19 weeks
Olfaction1
 No change
 Buried food test
 10-19 weeks
Pain or nociception1
 No change
 Hot plate test
 10-19 weeks
Sensorimotor gating1
 No change
 Acoustic startle reflex test
 10-19 weeks
Inanimate object preference1
 No change
 Three-chamber social approach test
 10-19 weeks
Nest building behavior1
 No change
 Nest building assay
 10-19 weeks
Social approach1
 No change
 Three-chamber social approach test
 10-19 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Physiological parameters, Seizure

M_KCTD13_2_HM_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show increased locomotion compared to controls.
Exp Paradigm: NA
 Home cage behavior
 10-19 weeks
Dendritic architecture: spine density1
Decreased
Description: Mutants show reduction in dendritic spine density compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Dendritic architecture: dendritic tree complexity1
Decreased
Description: Mutants show reduction in dendritic tree complexity compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Dendritic architecture: dendritic length1
Decreased
Description: Mutants show reduction in dendritic length compared to controls.
Exp Paradigm: NA
 Sholl analysis
 Not reported
Synaptic transmission1
Decreased
Description: Mutants show reduced synaptic transmission compared to controls.
Exp Paradigm: NA
 Whole-cell patch clamp
 P14-17
Miniature post synaptic current frequency: excitatory1
Decreased
Description: Mutants show decrease in mepsc frequency compared to controls.
Exp Paradigm: NA
 Whole-cell patch clamp
 P14-17
Local field potential1
Decreased
Description: Mutants show reduction of fepsp slope in extracellular recordings of field excitatory postsynaptic potentials (fepsps), compared to controls.
Exp Paradigm: NA
 In vivo local field potential (lfp) recordings
 4-6 weeks
Size/growth1
Decreased
Description: Mutants show a small decrease in body weight compared to controls.
Exp Paradigm: NA
 Body weight measurement
 12 weeks
Protein expression level evidence1
Increased
Description: Mutants show increased rhoa protein levels compared to controls.
Exp Paradigm: NA
 Western blot
 P18, 4-6 weeks
Targeted expression1
Decreased
Description: Mutants show complete loss of kctd13 protein in various brain regions compared to controls. mutants show complete loss of kctd13 transcript in various brain regions compared to controls. mutants show kctd13 promoter activity in neurons throughout the brain substantiated by lacz staining.
Exp Paradigm: Western blot
 Western blot
 Not reported
Targeted expression1
Decreased
Description: Mutants show complete loss of kctd13 protein in various brain regions compared to controls. mutants show complete loss of kctd13 transcript in various brain regions compared to controls. mutants show kctd13 promoter activity in neurons throughout the brain substantiated by lacz staining.
Exp Paradigm: Quantitative pcr (qrt-pcr)
 Quantitative pcr (qrt-pcr)
 Not reported
Targeted expression1
Decreased
Description: Mutants show complete loss of kctd13 protein in various brain regions compared to controls. mutants show complete loss of kctd13 transcript in various brain regions compared to controls. mutants show kctd13 promoter activity in neurons throughout the brain substantiated by lacz staining.
Exp Paradigm: Immunohistochemistry
 Immunohistochemistry
 Not reported
Anxiety1
 No change
 Elevated plus maze test
 10-19 weeks
Anxiety1
 No change
 Light-dark exploration test
 10-19 weeks
Anxiety1
 No change
 Open field test
 10-19 weeks
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 10-19 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 10-19 weeks
Object recognition memory1
 No change
 Novel object recognition test
 10-19 weeks
Spatial learning1
 No change
 Morris water maze test
 10-19 weeks
Spatial reference memory1
 No change
 Morris water maze test
 10-19 weeks
Spatial working memory1
 No change
 Object-place recognition test
 10-19 weeks
Protein expression level evidence1
 No change
 Western blot
 E15; not reported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10-19 weeks
Swimming ability1
 No change
 Morris water maze test
 10-19 weeks
Brain size1
 No change
 Gross necroscopy
 12 weeks, p7
Brain size1
 No change
 Magnetic resonance imaging (mri)
 12 weeks, p7
Cell proliferation: neural precursors1
 No change
 Immunohistochemistry
 12 weeks, e15.5
Cortical lamination1
 No change
 Immunohistochemistry
 E15, 2.4 weeks
Decay kinetics of miniature post synaptic currents1
 No change
 Whole-cell patch clamp
 P14-17
Miniature post synaptic current amplitude: excitatory1
 No change
 Whole-cell patch clamp
 P14-17
Presynaptic function: paired-pulse facilitation1
 No change
 Paired-pulse ratio
 P14-17
Repetitive digging1
 No change
 Marble-burying test
 10-19 weeks
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 10-19 weeks
Olfaction1
 No change
 Buried food test
 10-19 weeks
Pain or nociception1
 No change
 Hot plate test
 10-19 weeks
Sensorimotor gating1
 No change
 Acoustic startle reflex test
 10-19 weeks
Inanimate object preference1
 No change
 Three-chamber social approach test
 10-19 weeks
Nest building behavior1
 No change
 Nest building assay
 10-19 weeks
Social approach1
 No change
 Three-chamber social approach test
 10-19 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Physiological parameters, Seizure

M_KCTD13_3_HT_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Dendritic architecture: spine morphology1
Decreased
Description: Mutants show a decrease in branched spines in the basal dendrites of pyramidal neurons in the dorsal ca1 region of the hippocampus compared with controls but no change in branched spines in the retro spinal cortex.
Exp Paradigm: NA
 Golgi-cox staining
 Adult
Dendritic architecture: spine density1
Decreased
Description: Mutants show a decrease in the density of mature mushroom spines in the basal dendrites of pyramidal neurons in the dorsal ca1 region of the hippocampus compared with controls but no change in spine density in the retro spinal cortex.
Exp Paradigm: NA
 Golgi-cox staining
 Adult
Social transmission of food preference1
Decreased
Description: Mutants were not able to discriminate between familiar and novel flavored food compared with controls.
Exp Paradigm: NA
 Social transmission of food preference
 14 weeks
Spatial reference memory1
Decreased
Description: Mutants spent less time with exploring unfamiliar object location compared with controls.
Exp Paradigm: NA
 Object-place recognition test
 15, 16 weeks
Object recognition memory1
Decreased
Description: Mutants spent less time with unfamiliar object compared with controls.
Exp Paradigm: NA
 Novel object recognition test
 13 weeks
Targeted expression1
Decreased
Description: Mutants show nearly complete loss of kctd13 transcript in the hippocampus and cortex compared with controls.
Exp Paradigm: NA
 Rna sequencing
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in protein levels of kctd13 compared with controls.
Exp Paradigm: NA
 Western blot
 P1
Gene expression1
Abnormal
Description: Mutants show upregulation of dcnt5 and fam57b, down regulation of mapk3 and dysregulation of pathways important in neurodevelopment including synaptic formation compared with controls in the cortex and hippocampus.
Exp Paradigm: NA
 Rna sequencing
 Adult
Adaptation to dark phase1
 No change
 Home cage behavior
 19 weeks
Locomotor activity in diurnal cycle: light phase1
 No change
 Home cage behavior
 19 weeks
Mortality/lethality1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Size/growth1
 No change
 Body weight measurement
 5-14 weeks
Anxiety1
 No change
 Open field test
 12 weeks
Anxiety1
 No change
 Elevated zero maze test
 12 weeks
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 17 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 17 weeks
Spatial learning1
 No change
 Morris water maze test
 17-18 weeks
Spatial reference memory1
 No change
 Morris water maze test
 17-18 weeks
Protein expression level evidence1
 No change
 Western blot
 P1, 3 weeks, 15 weeks
General locomotor activity: ambulatory activity1
 No change
 Open field test
 12 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 16 weeks
Brain morphology1
 No change
 General observations
 Adult
Brain size1
 No change
 Magnetic resonance imaging (mri)
 Adult
Head bobbing1
 No change
 Elevated zero maze test
 12 weeks
Repetitive nose pokes1
 No change
 Hole-board test
 13 weeks
Self grooming: perseveration1
 No change
 Induced scratching response
 15 weeks
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 15 weeks
Olfaction1
 No change
 Olfactory discrimination test
 16 weeks
Rearing behavior1
 No change
 Open field test
 12 weeks
Social approach1
 No change
 Three-chamber social approach test
 14 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 15 weeks
Social memory1
 No change
 Three-chamber social approach test
 14 weeks
 Not Reported: Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure

M_KCTD13_4_HM_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Dendritic architecture: spine morphology1
Decreased
Description: Mutants show a decrease in branched spines in the basal dendrites of pyramidal neurons in the dorsal ca1 region of the hippocampus compared with controls but no change in branched spines in the retro spinal cortex.
Exp Paradigm: Retrosplenial cortex; hippocampus ca1 region
 Golgi-cox staining
 Adult
Dendritic architecture: spine density1
Decreased
Description: Mutants show a decrease in the density of mature mushroom spines in the basal dendrites of pyramidal neurons in the dorsal ca1 region of the hippocampus compared with controls but no change in spine density in the retrosplenial cortex.
Exp Paradigm: Retrosplenial cortex; hippocampus ca1 region
 Golgi-cox staining
 Adult
Olfactory learning and memory1
Decreased
Description: Mutants were not able to discriminate between familiar and novel flavored food compared with controls.
Exp Paradigm: NA
 Social transmission of food preference
 14 weeks
Object recognition memory1
Decreased
Description: Mutants spent less time with unfamiliar object compared with controls.
Exp Paradigm: NA
 Novel object recognition test
 13 weeks
Spatial reference memory1
Decreased
Description: Mutants spent less time with exploring unfamiliar object location compared with controls.
Exp Paradigm: NA
 Object-place recognition test
 15, 16 weeks
Protein expression level evidence1
Increased
Description: Mutants show increase in whole brain rhoa levels at p1 compared with controls.
Exp Paradigm: NA
 Western blot
 P1
Gene expression1
Abnormal
Description: Mutants show upregulation of dcnt5 and fam57b, down regulation of mapk3 and dysregulation of pathways important in neurodevelopment including synaptic formation compared with controls in the cortex and hippocampus.
Exp Paradigm: NA
 Rna sequencing
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in protein levels of kctd13 compared with controls.
Exp Paradigm: NA
 Western blot
 P1
Targeted expression1
Decreased
Description: Mutants show 50% decrease in kctd13 transcript compared with controls.
Exp Paradigm: NA
 Rna sequencing
 Adult
Adaptation to dark phase1
 No change
 Home cage behavior
 19 weeks
Locomotor activity in diurnal cycle: light phase1
 No change
 Home cage behavior
 19 weeks
Mortality/lethality1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Size/growth1
 No change
 Body weight measurement
 5-14 weeks
Anxiety1
 No change
 Open field test
 12 weeks
Anxiety1
 No change
 Elevated zero maze test
 12 weeks
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 17 weeks
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 17 weeks
Spatial learning1
 No change
 Morris water maze test
 17-18 weeks
Spatial reference memory1
 No change
 Morris water maze test
 17-18 weeks
Protein expression level evidence1
 No change
 Western blot
 3 weeks, 15 weeks
General locomotor activity: ambulatory activity1
 No change
 Open field test
 12 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 16 weeks
Brain size1
 No change
 Magnetic resonance imaging (mri)
 Adult
Head bobbing1
 No change
 Elevated zero maze test
 12 weeks
Repetitive nose pokes1
 No change
 Hole-board test
 13 weeks
Self grooming: perseveration1
 No change
 Induced scratching response
 15 weeks
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 15 weeks
Olfaction1
 No change
 Olfactory discrimination test
 16 weeks
Rearing behavior1
 No change
 Open field test
 12 weeks
Social approach1
 No change
 Three-chamber social approach test
 14 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 15 weeks
Social memory1
 No change
 Three-chamber social approach test
 14 weeks
 Not Reported: Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Seizure

M_KCTD13_5_HT_KO_MVP

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Morphology of the basal ganglia: striatum: caudoputamen1
Decreased
Description: Mutant males but not females show sex specific volumetric reduction of the striatum compared with controls.
Exp Paradigm: NA
 Magnetic resonance imaging (mri)
 Adult
Hippocampal morphology1
Decreased
Description: Mutant males but not females show sex specific volumetric reduction of the hippocampus compared with controls.
Exp Paradigm: NA
 Magnetic resonance imaging (mri)
 Adult
Brain size1
 No change
 Magnetic resonance imaging (mri)
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_KCTD13_6_HT_KO_LAT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Morphology of the basal ganglia: striatum: caudoputamen1
Decreased
Description: Mutant females but not males show sex specific reduction in striatal volumes compared with controls.
Exp Paradigm: NA
 Magnetic resonance imaging (mri)
 Adult
Brain size1
Decreased
Description: Mutant females but not males show sex specific reduction in whole brain volumes compared with controls.
Exp Paradigm: NA
 Magnetic resonance imaging (mri)
 Adult
Hippocampal morphology1
 No change
 Magnetic resonance imaging (mri)
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download KCTD13's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARIH1 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) 25820 Q9Y4X5 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARMC7 armadillo repeat containing 7 79637 Q9H6L4 Y2H
Rual JF , et al. 2005
C6orf55 Vps20-associated 1 homolog (S. cerevisiae) 51534 Q9NP79 Y2H
Rual JF , et al. 2005
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
CUL3 cullin 3 8452 B7Z600 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CUL3 cullin 3 8452 B7Z600 Y2H
Lin GN , et al. 2015
CUL3 cullin 3 8452 B7Z600 IP; LC-MS/MS
Huttlin EL , et al. 2015
FLJ22494 nudix (nucleoside diphosphate linked moiety X)-type motif 18 79873 Q6ZVK8 Y2H
Rual JF , et al. 2005
FLNC filamin C, gamma 2318 Q14315 IP; LC-MS/MS
Huttlin EL , et al. 2015
KAT7 K(lysine) acetyltransferase 7 11143 B4DGY4 Y2H
Rual JF , et al. 2005
KCTD10 potassium channel tetramerisation domain containing 10 83892 Q9H3F6 IP; MS; COMPASS
Sowa ME , et al. 2009
KCTD10 potassium channel tetramerisation domain containing 10 83892 Q9H3F6 IP; LC-MS/MS
Huttlin EL , et al. 2015
KCTD13 potassium channel tetramerisation domain containing 13 253980 Q8WZ19 IP; MS; COMPASS
Sowa ME , et al. 2009
KCTD13 potassium channel tetramerisation domain containing 13 253980 Q8WZ19 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LAMB4 laminin, beta 4 22798 A4D0S4 IP; MS; COMPASS
Sowa ME , et al. 2009
LNX ligand of numb-protein X 1, E3 ubiquitin protein ligase 84708 Q8TBB1 Y2H
Rual JF , et al. 2005
MYST2 K(lysine) acetyltransferase 7 11143 B4DGY4 Y2H
Rual JF , et al. 2005
Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 4790 P19838 Y2H; GST
He H , et al. 2001
NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 79873 Q6ZVK8 Y2H
Rual JF , et al. 2005
PCNA proliferating cell nuclear antigen 5111 P12004 Y2H
Rual JF , et al. 2005
PFDN2 prefoldin subunit 2 5202 B1AQP2 IP; LC-MS/MS
Huttlin EL , et al. 2015
PLEC plectin 5339 Q15149 IP; MS; COMPASS
Sowa ME , et al. 2009
POLD2 polymerase (DNA directed), delta 2, accessory subunit 5425 A4D2J4 Y2H
Rual JF , et al. 2005
SPRTN SprT-like N-terminal domain 83932 Q9H040 TAP; MS
Ghosal G , et al. 2012
SRPX sushi-repeat containing protein, X-linked 8406 B3KWP8 IP; MS; COMPASS
Sowa ME , et al. 2009
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 7020 P05549 Y2H; GST; IP/WB
Ding X , et al. 2008
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) 7126 Q13829 IP; MS; COMPASS
Sowa ME , et al. 2009
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) 7126 Q13829 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) 7126 Q13829 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
USP25 ubiquitin specific peptidase 25 29761 Q9UHP3 IP; MS; COMPASS
Sowa ME , et al. 2009
USP25 ubiquitin specific peptidase 25 29761 Q9UHP3 IP; LC-MS/MS
Huttlin EL , et al. 2015
VTA1 Vps20-associated 1 homolog (S. cerevisiae) 51534 Q9NP79 Y2H
Rual JF , et al. 2005
ZMYND19 zinc finger, MYND-type containing 19 116225 Q96E35 Y2H
Rual JF , et al. 2005
ZMYND19 zinc finger, MYND-type containing 19 116225 Q96E35 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CUL3 cullin 3 26554 Q9JLV5 IP/WB
Ibeawuchi SR , et al. 2015
Rnd2 Rho family GTPase 2 11858 Q9QYM5 Y2H; IP/WB
Gladwyn-Ng I , et al. 2016
Rnd3 Rho family GTPase 3 74194 P61588 Y2H; IP/WB
Gladwyn-Ng I , et al. 2016
Sp1 trans-acting transcription factor 1 20683 O89090 Luciferase reporter assay
Zhou J , et al. 2005

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