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Relevance to Autism

Deletion of Sema3f in mouse interneurons during early development decreased the number of interneurons/neurites and mRNAs for cell-specific GABAergic markers and increased epileptogenesis and autistic behaviors (Li et al., 2019).

Molecular Function

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deletion of Semaphorin 3F in Interneurons Is Associated with Decreased GABAergic Neurons, Autism-like Behavior, and Increased Oxidative Stress Casc...

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 14
 
3
Deletion
 1
 
3
Duplication
 1
 

Model Summary

Selective null deletion of Sema3f in interneurons but not excitatory neurons decreased the number of interneurons and mRNAs for cell-specific GABAergic markers and increased epileptogenesis and autistic behaviors including decreased sociability, increased digging, and jumping, neuroinflammation and oxidative stress.

References

Type
Title
Author, Year
Primary
Deletion of Semaphorin 3F in Interneurons Is Associated with Decreased GABAergic Neurons, Autism-like Behavior, and Increased Oxidative Stress Casc...

M_SEMA3F_1_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice selectively null for SEMA3F in postmitotic immature GABAergic inhibitory neurons (DLX5/6^Cre het; SEMA3F^fl/fl). Conditional ready mice, with loxP sites flanking the first exon were crossed with heterozygous Dlx5/6^Cre mice.
Allele Type: Conditional knockout
Strain of Origin:
Genetic Background: C57BL/6J*FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: Kolodkin lab (Johns Hopkins University); Jackson Laboratory

M_SEMA3F_2_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice selectively null for SEMA3F in excitatory neurons (Emx1^Cre het; SEMA3F^fl/fl). Conditional ready mice, with loxP sites flanking the first exon were crossed with heterozygous Emx1^Cre mice.
Allele Type: Conditional knockout
Strain of Origin:
Genetic Background: C57BL/6J
ES Cell Line:
Mutant ES Cell Line:
Model Source: gift from Dr. Alex Kolodkin (Johns Hopkins University); Jackson Laboratory

M_SEMA3F_3_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice selectively null for SEMA3F in neurons in the telencephalon and hypothalamus (Nkx2.1^Cre; SEMA3F^fl/fl). Conditional ready mice, with loxP sites flanking the first exon were crossed with homozygous Nkx2.1^Cre mice.
Allele Type: Conditional knockout
Strain of Origin:
Genetic Background: C57BL/6J*FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: Kolodkin lab (Johns Hopkins University); Jackson Laboratory

M_SEMA3F_1_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Decreased
Description: Mutants travel less distances compared with controls.
 Open field test
 Adult
Neuronal number: inhibitory neurons1
Decreased
Description: Mutants show decrease in inhibitory GABA positive interneurons in the hippocampus and cortex, and decrease in the number of calretinin positive interneurons in the CA1 region, compared with controls. Mutants show decrease in GABRA1 positive GABAergic interneurons in the hippocampus compared with controls.
 Immunohistochemistry
 Adult
Synapse density: inhibitory1
Decreased
Description: Mutants show decrease in neuroligin2 and GAD65 staining of GABAergic synapses in the CA3 region of the hippocampus compared with controls.
 Immunohistochemistry
 Adult
Neuronal number: inhibitory neurons1
Decreased
Description: Mutants show decrease in inhibitory GABA neuronal marker Dlx1 transcripts compared with controls, indicating a decrease in Dlx1 positive inhibitory GABAergic neurons.
 Semi-quantitative pcr (qrt-pcr)
 Adult
Neuronal number: interneurons1
Decreased
Description: Mutants show decrease in parvalbumin transcript in the cerebral cortex compared with controls.
 Semi-quantitative pcr (qrt-pcr)
 Adult
Hippocampal morphology1
Decreased
Description: Mutants show no change in the number of Nissl stained neurons in the pyramidal layer of the hippocampus but a decrease in neurons in the dendritic layers of the hippocampus compared with controls.
 Histology
 Adult
Neuronal number: interneurons1
Decreased
Description: Mutants show decrease in parvalbumin positive cells in the cerebral cortex compared with controls.
 Immunohistochemistry
 Adult
Oxidative stress in neurons1
Increased
Description: Mutants show increase in 4HNE and DHE staining in the cortex, hippocampus and amygdala compared with controls, indicating increase in lipid peroxidation and oxidative stress.
 Immunohistochemistry
 Adult
Vertical jumping or back flipping1
Increased
Description: Mutants jump more frequently compared with controls.
 Open field test
 Adult
Repetitive digging1
Decreased
Description: Mutants bury fewer marbles than controls.
 Marble-burying test
 Adult
Electroencephalogram (eeg): signature of seizure/epilepsy1
Increased
Description: Mutants show increase in seizure events, and spike counts per hour, and decrease in latency for GTC seizures compared with controls in long term video EEG.
 Electroencephalogram (eeg)
 Adult
Seizures1
Increased
Description: Mutants show increased epileptic events compared with controls.
 Electroencephalogram (eeg)
 Not specified
Seizure threshold1
Decreased
Description: Mutants show decreased latency to PTZ induced tonic clonic seizures compared with controls.
Exp Paradigm: A subconvulsant dose of PTZ was administered daily for 30 days.
 Observation of chemically induced seizures
 Adult
Social memory1
Decreased
Description: Mutants show no preference for a novel mouse over a familiar mouse compared with controls.
 Three-chamber social approach test
 Adult
Cns inflammation1
Increased
Description: Mutants show increased microglia activation in the hippocampus compared with controls, measured by increased Iba1 staining area.
 Immunohistochemistry
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F transcript in the hippocampus compared with controls.
 Semi-quantitative pcr (qrt-pcr)
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F protein in the hippocampus compared with controls.
 Western blot
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F protein expression in hippocampal interneurons compared with controls, indicating deletion of SEMA3F in ventral telencephalic neurons during development.
 Immunohistochemistry
 Adult
Microgliosis1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Adult
Neuronal number: excitatory neurons1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Adult
Neuronal number: excitatory neurons1
 No change
 Immunohistochemistry
 Adult
Neuronal number: interneurons1
 No change
 Immunohistochemistry
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Learning & memory, Maternal behavior, Physiological parameters, Sensory

M_SEMA3F_2_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal number: inhibitory neurons1
Decreased
Description: Mutants show decrease in inhibitory GABA positive interneurons in the somatosensory cortex but no change in inhibitory GABA positive interneurons or calretinin positive interneurons in the hippocampus compared with controls.
 Immunohistochemistry
 Adult
Seizure threshold1
Decreased
Description: Mutants show decreased latency to PTZ induced tonic clonic seizures compared with controls.
Exp Paradigm: A subconvulsant dose of PTZ was administered daily for 30 days.
 Observation of chemically induced seizures
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F transcript in the hippocampus compared with controls.
 Semi-quantitative pcr (qrt-pcr)
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F protein in the hippocampus compared with controls.
 Western blot
 Adult
Targeted expression1
Decreased
Description: Mutants show decrease in SEMA3F protein expression in hippocampal excitatory neurons compared with controls, indicating deletion of SEMA3F in dorsal telencephalic neurons during development.
 Immunohistochemistry
 Adult
Neuronal number in the brain1
 No change
 Immunohistochemistry
 Adult
Neuronal number: inhibitory neurons1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Adult
Neuronal number: interneurons1
 No change
 Immunohistochemistry
 Adult
Seizures1
 No change
 Electroencephalogram (eeg)
 Not specified
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_SEMA3F_3_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal number: inhibitory neurons1
Decreased
Description: Mutants show decrease in NPY transcript in the cerebral cortex compared with controls.
 Semi-quantitative pcr (qrt-pcr)
 Adult
Neuronal number: inhibitory neurons1
Decreased
Description: Mutants show a decrease in the number of neuropeptide Y positive neurons in the cortex compared with controls.
 Immunohistochemistry
 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

 

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