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No Human Gene Data Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 13
 
1
Duplication
 1
 
1
Duplication
 1
 
1
Duplication
 2
 
1
Deletion-Duplication
 23
 

Model Summary

FAM19A3 knockout mice display impaired responses to social novelty and defects in social communication. Only male FAM19A3 KO mice exhibit increased anxiety and increased repetitive behaviors. FAM19A3 KO mice did not exhibit changes in locomotor activities, fear learning and memory, and object recognition memory (Kim S, Sci. Rep., 2017).

References

Type
Title
Author, Year
Primary
Deficiency of a brain-specific chemokine-like molecule, SAM3, induces cardinal phenotypes of autism spectrum disorders in mice.

M_FAM19A3_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: FAM19A3 knockout mice were generated using TALEN to target exon 4 and delete 43 basepairs resulting in a frameshift mutation with a premature stop codon.
Allele Type: knockout
Strain of Origin:
Genetic Background: C57BL6/NTac
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_FAM19A3_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: FAM19A3 knockout mice were generated using TALEN to target exon 4 and delete 43 basepairs resulting in a frameshift mutation with a premature stop codon.
Allele Type: knockout
Strain of Origin:
Genetic Background: C57BL6/NTac
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_FAM19A3_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Repetitive digging1
Increased
Description: Mutant males buried more marbles compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Marble-burying test
 2-4 months
Self grooming: perseveration1
Increased
Description: Mutant males show increase in self-grooming compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Grooming behavior assessments
 2-4 months
Social memory1
Decreased
Description: Mutant females did not show a preference for the unfamiliar mouse over the familiar mouse whereas control females spent more time in the chamber with the novel mouse than with the familiar mouse.
Exp Paradigm: All behavior testing was performed during the light phase.
 Three-chamber social approach test
 2-4 months
Anxiety1
Increased
Description: Male mutants spent less time in the open arms compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Elevated plus maze test
 2-4 months
Targeted expression1
Decreased
Description: Mutants show reduction in wildtype allele and presence of mutant allele of fam19a3 compared to controls that showed only wildtype fam19a3 allele.
Exp Paradigm: NA
 Polymerase chain reaction (pcr)
 Not specified
Targeted expression1
Decreased
Description: Mutants show reduction in fam19a3 transcripts in the brain and hippocampus compared to controls.
Exp Paradigm: NA
 Semi-quantitative pcr (qrt-pcr)
 Not specified
General characteristics1
 No change
 General observations
 P0, adult
Mortality/lethality1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Size/growth1
 No change
 Body weight measurement
 8 weeks
Anxiety1
 No change
 Elevated plus maze test
 2-4 months
Fear response1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: passive avoidance1
 No change
 Passive avoidance test
 2-4 months
Object recognition memory1
 No change
 Novel object recognition test
 2-4 months
Gene expression1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Not specified
General locomotor activity: ambulatory activity1
 No change
 Open field test
 2-4 months
Repetitive digging1
 No change
 Marble-burying test
 2-4 months
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 2-4 months
Social approach1
 No change
 Three-chamber social approach test
 2-4 months
Social memory1
 No change
 Three-chamber social approach test
 2-4 months
Social scent marking or recognition1
 No change
 Scent marking test
 2-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory

M_FAM19A3_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Repetitive digging1
Increased
Description: Mutant males buried more marbles compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Marble-burying test
 2-4 months
Self grooming: perseveration1
Increased
Description: Mutants show increased self grooming compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Grooming behavior assessments
 2-4 months
Social scent marking or recognition1
Decreased
Description: Male mutant mice made fewer scent marks than controls and het mutant mice in the open field box, indicating reduced social communication.
Exp Paradigm: All behavior testing was performed during the light phase.
 Scent marking test
 2-4 months
Social memory1
Decreased
Description: Male mutant mice showed no preference for stranger 2 over stranger 1, whereas the wildtype controls and het male mice spent more time in the novel mouse chamber than in the familiar mouse chamber.
Exp Paradigm: All behavior testing was performed during the light phase.
 Three-chamber social approach test
 2-4 months
Anxiety1
Increased
Description: Male mutants spent less time in the open arms compared to controls.
Exp Paradigm: All behavior testing was performed during the light phase.
 Elevated plus maze test
 2-4 months
Targeted expression1
Decreased
Description: Mutants show no wildtype allele and presence of mutant allele of fam19a3 compared to controls that showed only wildtype fam19a3 allele.
Exp Paradigm: NA
 Polymerase chain reaction (pcr)
 Not specified
Targeted expression1
Decreased
Description: Mutants show absence of fam19a3 transcripts in the brain and hippocampus compared to controls.
Exp Paradigm: NA
 Semi-quantitative pcr (qrt-pcr)
 Not specified
General characteristics1
 No change
 General observations
 P0, adult
Mortality/lethality1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Size/growth1
 No change
 Body weight measurement
 8 weeks
Anxiety1
 No change
 Elevated plus maze test
 2-4 months
Fear response1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: passive avoidance1
 No change
 Passive avoidance test
 2-4 months
Object recognition memory1
 No change
 Novel object recognition test
 2-4 months
Gene expression1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Not specified
General locomotor activity: ambulatory activity1
 No change
 Open field test
 2-4 months
Repetitive digging1
 No change
 Marble-burying test
 2-4 months
Social approach1
 No change
 Three-chamber social approach test
 2-4 months
Social memory1
 No change
 Three-chamber social approach test
 2-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory

 

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