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Relevance to Autism

A de novo deletion involving the ATRNL1 gene was identified in a male patient diagnosed with PDD-NOS, cognitive impairment, ataxia, ventricular septal defect, postnatal growth retardation, and dysmorphic features (Stark et al., 2010).

Molecular Function

May play a role in melanocortin signaling pathways that regulate energy homeostasis

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
ASD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Recent Recommendation
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN411R001 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN411R002 
 frameshift_variant 
 c.1395_1399del 
 p.Gly466IlefsTer5 
 Unknown 
  
 Simplex 
 GEN411R003 
 stop_gained 
 c.3889C>T 
 p.Arg1297Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN411R004 
 missense_variant 
 c.4006C>G 
 p.Pro1336Ala 
 De novo 
  
 Simplex 
 GEN411R005 
 missense_variant 
 c.2560G>A 
 p.Ala854Thr 
 De novo 
  
 Simplex 
 GEN411R006 
 missense_variant 
 c.67C>T 
 p.Arg23Trp 
 De novo 
  
  
 GEN411R007 
 intron_variant 
 c.2100+603A>G 
  
 De novo 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Duplication
 1
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Duplication
 2
 
10
Duplication
 1
 
10
Deletion
 1
 
10
Duplication
 2
 
10
Deletion-Duplication
 7
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Deletion-Duplication
 13
 

Model Summary

Mutant mice were grossly normal with no alterations of pigmentation, central nervous system pathology or body weight.

References

Type
Title
Author, Year
Primary
Genetic analysis of attractin homologs.

M_ATRNL1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted gene replacement of 40 nucleotides in exon 24 of Atrnl1 with a strong splice acceptor and polyadenylation signal.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: (129 X 1/SvJ X 129S1/Sv)F1-KitI
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ATRNL1_2_TG_MG-3J_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Transgene consisting of coding region of Atrnl1 gene and human ACTB promoter and first intron, and upstream of a 460 bp SV40-derived fragment containing the small t intron and major polyadenylation site.
Allele Type: Targeted (Transgene)
Strain of Origin: Not Specified
Genetic Background: HeJ-Atrnmg-3J
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ATRNL1_3_TG_PST112_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Transgene consisting of coding region of Atrnl1 gene and human ACTB promoter and first intron, and upstream of a 460 bp SV40-derived fragment containing the small t intron and major polyadenylation site.
Allele Type: Targeted (Transgene)
Strain of Origin: Not Specified
Genetic Background: 129S1/SvImJ-Atrnpst112
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ATRNL1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Coat color1
 No change
 General observations
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Brain morphology1
 No change
 Histology
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_ATRNL1_2_TG_MG-3J_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain morphology1
Decreased
Description: Decreased mild to moderate spongiform vacuolation in cerebral cortex, hippocampus, cerebellum, pons, and thalamus
Exp Paradigm: Histological examination of various brain regions
 Histology
 3 months
Brain morphology1
Decreased
Description: Decreased hypomyelination to intermediate levels in spinal cord
Exp Paradigm: Luxol fast blue staining of spinal cord
 Histology
 4 weeks
Brain morphology1
Decreased
Description: Decreased spongiform vacuolation in cerebral cortex, hippocampus, cerebellum, pons, and thalamus
Exp Paradigm: Histological examination of various brain regions
 Histology
 3 months
Coat color1
Abnormal
Description: Abnormal partial rescue of phenotype resulting in dark agouti hairs
Exp Paradigm: General observations
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_ATRNL1_3_TG_PST112_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain morphology1
Decreased
Description: Decreased mild to moderate spongiform vacuolation in cerebral cortex, hippocampus, cerebellum, pons, and thalamus
Exp Paradigm: Histological examination of various brain regions
 Histology
 3 months
Brain morphology1
Decreased
Description: Decreased hypomyelination to intermediate levels in spinal cord
Exp Paradigm: Luxol fast blue staining of spinal cord
 Histology
 4 weeks
Brain morphology1
Decreased
Description: Decreased spongiform vacuolation in cerebral cortex, hippocampus, cerebellum, pons, and thalamus
Exp Paradigm: Histological examination of various brain regions
 Histology
 3 months
Coat color1
Increased
Description: Increased rescue of coat color phenotype
Exp Paradigm: General observations
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download ATRNL1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015

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