Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
N-acetyltransferase 8-like
Synonyms:
1110038O08Rik,  Shati

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nat8l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nat8l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia OMIM:614063

The table below shows human diseases predicted to be associated to Nat8l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal social behavior, Gait disturb... ORPHA:255
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:101039
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity ORPHA:243343
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia OMIM:614063
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Trichotillomania
Hair-pulling OMIM:613229
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Progressive psyc... ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Progressive gait ataxia, Difficulty walking, Abnormal social behavior, Emotio... ORPHA:309271
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Attention deficit hyperactivity disorder, Abnorm... ORPHA:96263
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Unsteady gait, Dysmetria, Memory impairmen... ORPHA:314647
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Apathy, Self-injurious behavior, Bradyphrenia, Blepharospasm, ... ORPHA:2388
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Aggressive behavior, Dementia, Pr... ORPHA:646
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Head-banging, Anxiety, Atte... ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:401973
Tuberous Sclerosis Complex
Aggressive behavior, Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, A... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:363958
Monosomy 22Q13.3
Hair-pulling, Hyperactivity ORPHA:48652
Williams Syndrome
Overfriendliness, Abnormal social behavior, Gait disturbance, Ataxia, Anxiety, Dysmetria, Gait im... ORPHA:904

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nat8l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nat8l.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. Acta neuropathologica (November 2017) Nat8ltm1(KOMP)Vlcg PMC5756261
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience (January 2017) Nat8ltm1(KOMP)Vlcg PMC5242397

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nat8ltm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nat8ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nat8ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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