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
Truncal ataxia, Unsteady gait, Self-mutilation OMIM:614063

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Shyness, Aggressive behavior OMIM:618221
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability OMIM:615006
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of p... ORPHA:96369
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Anxiety, Panic attack, Gait disturbance... ORPHA:255
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
N-Acetylaspartate Deficiency
Truncal ataxia, Unsteady gait, Self-mutilation OMIM:614063
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Poor eye contact, Self-injurious behavior, Anxiety, Attention deficit hyperactivit... ORPHA:449291
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Semantic dementia, Abnormal social behavior, Memory impairment, Dementia ORPHA:1020
Trichotillomania
Hair-pulling OMIM:613229
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Gait ataxia, Progressive gait ataxia, Emotional lability ORPHA:309256
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Difficulty wa... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Progressive gait ataxia, Abnormal soci... ORPHA:309263
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,... ORPHA:96263
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Memory impairment,... ORPHA:314647
Choreoacanthocytosis
Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Irritability, H... ORPHA:2388
Niemann-Pick Disease Type C
Ataxia, Apathy, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive... ORPHA:646
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Inability to walk, Irritability, Abnormal soc... ORPHA:1675
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Irritability, Hair-pulling ORPHA:447997
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention deficit hyperactivity ... ORPHA:177907
Fg Syndrome Type 1
Broad-based gait, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Self-injurious behavior, Hyperactivity, Abnormal social behavior, Anxiety, Attention deficit hype... ORPHA:805
Monosomy 22Q13.3
Hyperactivity, Hair-pulling ORPHA:48652
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363958
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Anxiety, Gait dist... 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
Nat8ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Nat8ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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