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Relevance to Autism

Maternally-inherited variants affecting the NEXMIF gene have been identified in male probands presenting with intellectual disability and autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013).

Molecular Function

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
ID
Support
A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.
ID, ASD
Support
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent
DD, epilepsy/seizures
ASD or autistic features, ADHD, ID
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
ASD
Support
NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
DD, ID
Support
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
DD, ID, epilepsy/seizures
Support
ASD
DD, ID
Support
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
DD, ID
Microcephaly, short stature
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID, epilepsy/seizures
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Integrating de novo and inherited variants in 42
ASD
Support
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
ID, epilepsy/seizures
Autistic features
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
KIAA2022 nonsense mutation in a symptomatic female.
ID, epilepsy/seizures
Autistic behavior, microcephaly, short stature
Support
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity
DD, ID, epilepsy/seizures
Autistic behavior
Support
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
ID, autistic features
Epilepsy/seizures
Support
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability
X-linked mental retardation-98
DD, ID, epilepsy/seizures
Support
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
ID, ASD
Support
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
DD, ID
Support
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Epilepsy/seizures
DD/ID
Support
Epilepsy/seizures
DD, ID
Support
Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients
X-linked mental retardation-98 (MRX98)
ASD or autistic features, DD, ID, epilepsy/seizure
Support
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
ID, autistic features
Hypotonia, distinctive facial dysmorphisms
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Epilepsy/seizures
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID, epilepsy/seizures
Support
ASD
Support
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
ID, epilepsy/seizures
Recent Recommendation
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
X-linked mental retardation-98, DD, ID, epilepsy/s
ASD/autistic features
Recent Recommendation
The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and -Catenin Signaling.
Recent Recommendation
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
ID, epilepsy/seizures
ASD or autistic features
Recent Recommendation
XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration.
Recent Recommendation
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
ID
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN538R001 
 inversion 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN538R002 
 frameshift_variant 
 c.186del 
 p.Gly63ValfsTer21 
 Familial 
 Maternal 
 Multi-generational 
 GEN538R003 
 frameshift_variant 
 c.3597dupA 
 p.Ser1200TyrfsTer5 
 Familial 
 Maternal 
 Multi-generational 
 GEN538R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN538R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN538R006 
 stop_gained 
 c.4411C>T 
 p.Gln1471Ter 
 Unknown 
  
 Unknown 
 GEN538R007 
 stop_gained 
 c.2113C>T 
 p.Gln705Ter 
 De novo 
  
 Simplex 
 GEN538R008 
 stop_gained 
 c.964C>T 
 p.Arg322Ter 
 De novo 
  
 Simplex 
 GEN538R009 
 translocation 
  
  
 De novo 
  
  
 GEN538R010 
 stop_gained 
 c.964C>T 
 p.Arg322Ter 
 De novo 
  
 Simplex 
 GEN538R011 
 missense_variant 
 c.3402C>A 
 p.His1134Gln 
 De novo 
  
 Simplex 
 GEN538R012 
 frameshift_variant 
 c.4185del 
 p.Lys1396fs 
 De novo 
  
  
 GEN538R013 
 stop_gained 
 c.438C>A 
 p.Cys146Ter 
 De novo 
  
  
 GEN538R014 
 frameshift_variant 
 c.2042del 
 p.Gly681fs 
 De novo 
  
  
 GEN538R015 
 stop_gained 
 c.964C>T 
 p.Arg322Ter 
 De novo 
  
  
 GEN538R016 
 frameshift_variant 
 c.2201_2202delAA 
 p.Lys734SerfsTer24 
 De novo 
  
  
 GEN538R017 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 De novo 
  
  
 GEN538R018 
 frameshift_variant 
 c.3053_3066del14 
 p.Gly1018AspfsTer2 
 De novo 
  
  
 GEN538R019 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN538R020 
 frameshift_variant 
 c.1582delA 
 p.Arg528GlufsTer4 
 De novo 
  
  
 GEN538R021 
 stop_gained 
 c.1882C>T 
 p.Arg628Ter 
 De novo 
  
  
 GEN538R022 
 frameshift_variant 
 c.2725del 
 p.Ala909ProfsTer13 
 De novo 
  
  
 GEN538R023 
 stop_gained 
 c.652C>T 
 p.Arg218Ter 
 De novo 
  
  
 GEN538R024 
 stop_gained 
 c.952C>T 
 p.Gln318Ter 
 De novo 
  
  
 GEN538R025 
 frameshift_variant 
 c.3596_3597insA 
 p.Lys1199Asnfs 
 De novo 
  
  
 GEN538R026 
 stop_gained 
 c.2707G>T 
 p.Glu903Ter 
 De novo 
  
  
 GEN538R027 
 frameshift_variant 
 c.422delA 
 p.Gln141ArgfsTer7 
 De novo 
  
  
 GEN538R028 
 frameshift_variant 
 c.625dupC 
 p.Leu209ProfsTer3 
 De novo 
  
  
 GEN538R029 
 stop_gained 
 c.937C>T 
 p.Arg313Ter 
 De novo 
  
  
 GEN538R030 
 frameshift_variant 
 c.2774_2775insGAAA 
 p.Asn926LysfsTer3 
 Unknown 
  
 Simplex 
 GEN538R031 
 frameshift_variant 
 c.2999_3000delCT 
 p.Ser1000Cysfs 
 De novo 
  
  
 GEN538R032 
 frameshift_variant 
 c.2937_2938insGAAAG 
 p.Gln980GlufsTer32 
 De novo 
  
 Simplex 
 GEN538R033 
 stop_gained 
 c.652C>T 
 p.Arg218Ter 
 Unknown 
  
 Multiplex 
 GEN538R034 
 stop_gained 
 c.2707G>T 
 p.Glu903Ter 
 De novo 
  
  
 GEN538R035 
 stop_gained 
 c.3470C>A 
 p.Ser1157Ter 
 Familial 
 Maternal 
 Simplex 
 GEN538R036 
 translocation 
  
  
 De novo 
  
  
 GEN538R037 
 frameshift_variant 
 c.1262_1271del 
 p.Leu421GlnfsTer76 
 Unknown 
  
  
 GEN538R038 
 frameshift_variant 
 c.1851del 
 p.Phe617LeufsTer55 
 Familial 
 Maternal 
 Extended multiplex 
 GEN538R039 
 frameshift_variant 
 c.1063del 
 p.Leu355Ter 
 De novo 
  
 Simplex 
 GEN538R040 
 stop_gained 
 c.898G>T 
 p.Glu300Ter 
 De novo 
  
  
 GEN538R041 
 stop_gained 
 c.2645C>G 
 p.Ser882Ter 
 Unknown 
  
  
 GEN538R042 
 frameshift_variant 
 c.3458dupA 
 p.Asn1153LysfsTer8 
 De novo 
  
  
 GEN538R043 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN538R044 
 stop_gained 
 c.1975C>T 
 p.Gln659Ter 
 De novo 
  
 Simplex 
 GEN538R045 
 stop_gained 
 c.2799C>A 
 p.Tyr933Ter 
 De novo 
  
 Simplex 
 GEN538R046 
 stop_gained 
 c.964C>T 
 p.Arg322Ter 
 Unknown 
  
 Multiplex 
 GEN538R047 
 frameshift_variant 
 c.3797dup 
 p.Met1268TyrfsTer28 
 De novo 
  
 Simplex 
 GEN538R048 
 frameshift_variant 
 c.2158dup 
 p.Ile720AsnfsTer4 
 De novo 
  
 Simplex 
 GEN538R049 
 stop_gained 
 c.1882C>T 
 p.Arg628Ter 
 Unknown 
  
  
 GEN538R050 
 stop_gained 
 c.882C>A 
 p.Tyr294Ter 
 De novo 
  
  
 GEN538R051 
 stop_gained 
 c.1882C>T 
 p.Arg628Ter 
 De novo 
  
 Simplex 
 GEN538R052 
 stop_gained 
 c.3376G>T 
 p.Glu1126Ter 
 De novo 
  
 Simplex 
 GEN538R053 
 frameshift_variant 
 c.1262_1271del 
 p.Leu421GlnfsTer76 
 De novo 
  
 Simplex 
 GEN538R054 
 stop_gained 
 c.2892C>G 
 p.Tyr964Ter 
 De novo 
  
 Simplex 
 GEN538R055 
 stop_gained 
 c.3142G>T 
 p.Glu1048Ter 
 De novo 
  
 Simplex 
 GEN538R056 
 stop_gained 
 c.2984C>A 
 p.Ser995Ter 
 De novo 
  
 Simplex 
 GEN538R057 
 frameshift_variant 
 c.2133del 
 p.Pro712GlnfsTer17 
 De novo 
  
  
 GEN538R058 
 stop_gained 
 c.2749G>T 
 p.Gly917Ter 
 De novo 
  
 Simplex 
 GEN538R059 
 stop_gained 
 c.336G>A 
 p.Trp112Ter 
 De novo 
  
  
 GEN538R060 
 stop_gained 
 c.3652C>T 
 p.Gln1218Ter 
 De novo 
  
  
 GEN538R061 
 stop_gained 
 c.784G>T 
 p.Glu262Ter 
 De novo 
  
 Simplex 
 GEN538R062 
 stop_gained 
 c.1954C>T 
 p.Gln652Ter 
 De novo 
  
 Simplex 
 GEN538R063 
 frameshift_variant 
 c.3458dupA 
 p.Asn1153LysfsTer8 
 Unknown 
 Not maternal 
 Simplex 
 GEN538R064 
 frameshift_variant 
 c.3458dup 
 p.Asn1153LysfsTer8 
 De novo 
  
 Simplex 
 GEN538R065 
 stop_gained 
 c.1882C>T 
 p.Arg628Ter 
 De novo 
  
 Simplex 
 GEN538R066 
 frameshift_variant 
 c.280dup 
 p.Ala94GlyfsTer24 
 Familial 
 Maternal 
 Multiplex 
 GEN538R067 
 frameshift_variant 
 c.3597dup 
 p.Ser1200IlefsTer5 
 De novo 
  
  
 GEN538R068 
 stop_gained 
 c.1568G>A 
 p.Trp523Ter 
 De novo 
  
 Simplex 
 GEN538R069 
 stop_gained 
 c.652C>T 
 p.Arg218Ter 
 De novo 
  
 Simplex 
 GEN538R070 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN538R071 
 frameshift_variant 
 c.2562_2563dup 
 p.Leu855ProfsTer55 
 Unknown 
 Not paternal 
 Simplex 
 GEN538R072 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 De novo 
  
 Simplex 
 GEN538R073 
 frameshift_variant 
 c.3458dup 
 p.Asn1153LysfsTer8 
 De novo 
  
  
 GEN538R074 
 stop_gained 
 c.2758C>T 
 p.Gln920Ter 
 De novo 
  
 Simplex 
 GEN538R075 
 stop_gained 
 c.2984C>A 
 p.Ser995Ter 
 De novo 
  
 Simplex 
 GEN538R076 
 stop_gained 
 c.336G>A 
 p.Trp112Ter 
 De novo 
  
 Simplex 
 GEN538R077 
 stop_gained 
 c.2892C>G 
 p.Tyr964Ter 
 Unknown 
  
 Simplex 
 GEN538R078 
 frameshift_variant 
 c.2084_2085insCA 
 p.Gly696LysfsTer6 
 Familial 
 Maternal 
  
 GEN538R079 
 frameshift_variant 
 c.1294dup 
 p.Ser432PhefsTer10 
 De novo 
  
 Simplex 
 GEN538R080 
 frameshift_variant 
 c.3591del 
 p.Lys1199AsnfsTer73 
 De novo 
  
  
 GEN538R081 
 stop_gained 
 c.705T>A 
 p.Tyr235Ter 
 De novo 
  
 Simplex 
 GEN538R082 
 frameshift_variant 
 c.2053del 
 p.Cys685ValfsTer7 
 De novo 
  
  
 GEN538R083 
 frameshift_variant 
 c.883_884del 
 p.Met295ValfsTer2 
  
  
 Unknown 
 GEN538R084 
 stop_gained 
 c.694C>T 
 p.Gln232Ter 
 Unknown 
  
 Simplex 
 GEN538R085 
 frameshift_variant 
 c.883_884del 
 p.Met295ValfsTer2 
 Unknown 
 Not maternal 
 Simplex 
 GEN538R086 
 inframe_deletion 
 c.3156_3158del 
 p.Leu1053del 
 Familial 
 Maternal 
 Multiplex 
 GEN538R087 
 missense_variant 
 c.1556A>T 
 p.Asp519Val 
 Familial 
 Maternal 
 Multiplex 
 GEN538R088 
 missense_variant 
 c.3901A>T 
 p.Asn1301Tyr 
 De novo 
  
  
 GEN538R089 
 stop_gained 
 c.4405C>T 
 p.Arg1469Ter 
 Unknown 
  
  
 GEN538R090 
 missense_variant 
 c.431G>A 
 p.Arg144Gln 
 Unknown 
  
  
 GEN538R091 
 frameshift_variant 
 c.3842del 
 p.Gly1281GlufsTer16 
 Unknown 
  
  
 GEN538R092 
 frameshift_variant 
 c.3734dup 
 p.Ser1246LysfsTer15 
 Unknown 
  
  
 GEN538R093 
 frameshift_variant 
 c.3221dup 
 p.Asp1075GlyfsTer4 
 Unknown 
  
  
 GEN538R094 
 frameshift_variant 
 c.1123dup 
 p.Glu375GlyfsTer4 
 Unknown 
  
  
 GEN538R095 
 stop_gained 
 c.1069C>T 
 p.Gln357Ter 
 Unknown 
  
  
 GEN538R096 
 stop_gained 
 c.1069C>T 
 p.Gln357Ter 
 Unknown 
  
  
 GEN538R097 
 missense_variant 
 c.3055G>A 
 p.Asp1019Asn 
 Unknown 
  
  
 GEN538R098 
 missense_variant 
 c.65G>A 
 p.Gly22Glu 
 Unknown 
  
  
 GEN538R099 
 missense_variant 
 c.431G>A 
 p.Arg144Gln 
 Unknown 
  
  
 GEN538R100 
 missense_variant 
 c.431G>A 
 p.Arg144Gln 
 Unknown 
  
  
 GEN538R101 
 stop_gained 
 c.937C>T 
 p.Arg313Ter 
 De novo 
  
 Simplex 
 GEN538R102 
 missense_variant 
 c.4162G>A 
 p.Ala1388Thr 
 Familial 
 Maternal 
  
 GEN538R103 
 frameshift_variant 
 c.788del 
 p.Thr263IlefsTer41 
 Unknown 
  
 Unknown 
 GEN538R104 
 frameshift_variant 
 c.846_849del 
 p.Val283ThrfsTer20 
 De novo 
  
 Simplex 
 GEN538R105 
 stop_gained 
 c.937C>T 
 p.Arg313Ter 
 De novo 
  
 Simplex 
 GEN538R106 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 De novo 
  
  
 GEN538R107 
 missense_variant 
 c.3964A>G 
 p.Asn1322Asp 
 De novo 
  
  
 GEN538R108 
 stop_gained 
 c.2667G>A 
 p.Trp889Ter 
 De novo 
  
 Simplex 
 GEN538R109 
 stop_gained 
 c.652C>T 
 p.Arg218Ter 
 De novo 
  
 Simplex 
 GEN538R110a 
 missense_variant 
 c.3569G>A 
 p.Ser1190Asn 
 De novo 
  
 Simplex 
 GEN538R110b 
 frameshift_variant 
 c.3565_3566insCACTCTTCTCAGA 
 p.Gln1189ProfsTer20 
 De novo 
  
 Simplex 
 GEN538R111 
 missense_variant 
 c.1505A>G 
 p.Glu502Gly 
 Unknown 
  
 Extended multiplex 
 GEN538R112 
 frameshift_variant 
 c.846_849del 
 p.Val283ThrfsTer20 
 Unknown 
  
 Simplex 
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 
X
Deletion
 2
 
X
Duplication
 2
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 5
 
X
Duplication
 1
 
X
Deletion
 12
 

Model Summary

NEXMIF KO mice show reduced sociability, social memory, usv communication and marble-buring, increased locomotion, epetitive grooming behavior, and deficits in spatial learning and memory as measured in the fear conditioning test and Barnes maze. Loss of NEXMIF shows decrease in synapse density and synaptic protein expression as well as abnormal spine morphology.

References

Type
Title
Author, Year
Primary
NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.
Additional

M_NEXMIF_1_KO_HE

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: C77370tm1 (KOMP) Wtsi (KIAA2022) KO mice were generated through the deletion of exon 4 of Nexmif. Heterozygous female mice were crossed with wildtype male mice and hetrozygous KO male mice used for experiments since Nexmif is an X-linked gene.
Allele Type: Knockout
Strain of Origin: C57Bl/6J
Genetic Background: C57Bl/6J
ES Cell Line: KIAA2022 KO embryonic stem (ES) cells
Mutant ES Cell Line:
Model Source: Pettitt et al, 2009 (PMID 19525957); KOMP, clone EPD0411_7_H02

M_NEXMIF_1_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Self grooming: home cage/familiar environment1
Increased
Description: Mutants show increase in the time spent and the number of episodes of self-grooming, resulting in patches of lost fur.
Exp Paradigm: NA
 Grooming behavior assessments
 8-12 weeks
General locomotor activity: ambulatory activity1
Increased
Description: Mutants travel longer distance.
Exp Paradigm: NA
 Open field test
 8-12 weeks
General locomotor activity1
Increased
Description: Mutants travel at higher speed.
Exp Paradigm: NA
 Open field test
 8-12 weeks
Dendritic architecture: spine density1
Decreased
Description: Mutants show decrease in hippocampal dendritic spine density.
Exp Paradigm: NA
 Golgi-cox staining
 3 months
Neuroreceptor levels: glutamate receptors: ampa receptors1
Decreased
Description: Mutants show a decrease in the expression of ampar subunit glua1, in the hippocampus and cortex.
Exp Paradigm: NA
 Western blot
 8-12 weeks
Neuroreceptor levels: glutamate receptors: ampa receptors1
Decreased
Description: Mutants show a decrease in the expression of ampar subunit glua1 in the hippocampus.
Exp Paradigm: NA
 Immunohistochemistry
 8-12 weeks
Dendritic architecture: spine morphology1
Abnormal
Description: Mutants show an increase in immature filopodia and thin spine protrusions with less mature stubby spines in the hippocampus. mutants show an increase in dendritic spine length in the hippocampus.
Exp Paradigm: NA
 Golgi-cox staining
 3 months
Presynaptic function: paired-pulse facilitation1
Increased
Description: Mutants show increase in paired pulse ratio, particularly at high frequency stimulation, in ca3-ca1 synapses in hippocampal brain slices, indicating abnormality in presynaptic function.
Exp Paradigm: NA
 Field potential recordings
 15-17 weeks
Network excitability: synchronous2
Increased
Description: If the observed correlation coefficient was greater than the 95th percentile of the shuffled null distribution, a neuron pair was deemed significantly correlated (correlated pair). The fraction of session-relevant pairs was increased in NEXMIF knockout. In wildtype mice, the correlation strengths of these session-relevant pairs were slightly higher during running, but were not significantly different between resting and running, indicating that when an animal switches between the two behavioral states, the relevant CA1 network connectivity remains largely stable. In knockout mice, however, correlation strength among session-relevant cells is significantly higher during running than resting. In wildtype force-directed maps, cells were more tightly clustere
Exp Paradigm: in vivo
 Calcium imaging
 7-34 weeks
Network excitability2
Increased
Description: A cell was deemed to be movement-modulated if the observed neural activity difference was greater than the 97.5th percentile of the shuffled null distribution for that cell. Using this analysis, 31.0% of neurons were found to be movement-modulated in knockout animals, significantly higher than the 25.7% observed in wildtype.
Exp Paradigm: in vivo
 Calcium imaging
 7-34 weeks
Epsp-spike relationship1
Decreased
Description: Mutants show a decrease in input-output relationship at ca3-ca1 synapses, indicating decrease in excitatory synaptic strength.
Exp Paradigm: NA
 Field potential recordings
 15-17 weeks
Repetitive digging1
Decreased
Description: Mutant mice bury fewer marbles, indicating decrease in interest in external environment.
Exp Paradigm: NA
 Marble-burying test
 8-12 weeks
Seizures1
Increased
Description: Mutants show spontaneous seizures that were fatal at older ages.
Exp Paradigm: NA
 General observations
 3 months
Social memory1
Decreased
Description: Mutant mice show no preference for an unfamiliar mouse.
Exp Paradigm: NA
 Three-chamber social approach test
 8-12 weeks
Social approach1
Decreased
Description: Mutant mice spent less time with a social mouse stimulus than with an empty cup.
Exp Paradigm: NA
 Three-chamber social approach test
 8-12 weeks
Ultrasonic vocalization: isolation induced1
Decreased
Description: Mutants make fewer calls, make calls of shorter length, spend less time calling, use less modulation in calls and show no change in peak amplitude or frequency of calls.
Exp Paradigm: NA
 Monitoring ultrasonic vocalizations
 P5, p7, p9
Anxiety1
Increased
Description: Mutants travel less in the center.
Exp Paradigm: NA
 Open field test
 8-12 weeks
Spatial working memory1
Decreased
Description: Mutant mice were slower to use direct search strategies to locate the target hole and employed more mixed or serial searches. mutants improved in direct searches over the training sessions.
Exp Paradigm: NA
 Barnes maze test
 8-12 weeks
Spatial reference memory1
Decreased
Description: Mutant mice show decrease in the number of nose pokes made at the target hole during probe for spatial memory when the target hole was covered at 5 days but not at 24 hours post-training. mutants took longer to find the target hole and travelled longer distances before finding the target hole.
Exp Paradigm: NA
 Barnes maze test
 8-12 weeks
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mutants show decrease in freezing when exposed to the cued tone associated with foot shock in prior training sessions.
Exp Paradigm: NA
 Fear conditioning test
 8-12 weeks
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Mutants show decrease in freezing time and increase in motion when placed in the context associated with foot shock in prior training sessions.
Exp Paradigm: NA
 Fear conditioning test
 8-12 weeks
Targeted expression1
Decreased
Description: Mutants show loss of the nexmif protein in cytoplasmic and nuclear fractions of cortical lysates.
Exp Paradigm: NA
 Western blot
 8-12 weeks
Targeted expression1
Decreased
Description: Mutants show loss of the nexmif protein in cortical layers.
Exp Paradigm: NA
 Immunohistochemistry
 P0
Protein expression level evidence1
Decreased
Description: Mutants show decrease in levels of the gabaa receptor alpha1 subunit, the scaffolding protein gephyrin but no change in synapsin or psd05 in the hippocampus and the cerebral cortex.
Exp Paradigm: NA
 Western blot
 8-12 weeks
General characteristics1
 No change
 General observations
 8-12 weeks
Mortality/lethality1
 No change
 General observations
 Adult
Size/growth1
 No change
 General observations
 P0
Fear response1
 No change
 Fear conditioning test
 8-12 weeks
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 8-12 weeks
Spatial learning1
 No change
 Barnes maze test
 8-12 weeks
General locomotor activity2
 No change
 Spherical treadmill
 7-34 weeks
Brain morphology1
 No change
 General observations
 8-12 weeks
Cortical lamination1
 No change
 Histology
 8-12 weeks
Cortical thickness1
 No change
 Histology
 8-12 weeks
Hippocampal morphology1
 No change
 Immunohistochemistry
 P0
Neocortex morphology1
 No change
 Immunohistochemistry
 P0
Action potential property: firing pattern2
 No change
 Calcium imaging
 7-34 weeks
Neuronal activation2
 No change
 Calcium imaging
 7-34 weeks
Neuronal activation: locomotion2
 No change
 Calcium imaging
 7-34 weeks
Satiety response1
 No change
 General observations
 8-12 weeks
 Not Reported: Circadian sleep/wake cycle, Immune response, Maternal behavior, Physiological parameters, Sensory

No PIN Data Available
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