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Gene: Aadat MGI:1345167

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aminoadipate aminotransferase
Synonyms:
Kyat2,  mKat-2,  KATII,  Kat2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Aadat 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Epicanthus, ... OMIM:309548
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Epicanthus... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Hyperactivity, Abnormality of the palpebral fi... ORPHA:521258
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 67
Telecanthus, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Ataxia OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity OMIM:300928
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Thick eyebrow, Epicanthus, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Coffin-Siris Syndrome 8
Self-injurious behavior, Long eyelashes, Thick eyebrow, Aggressive behavior, Ptosis, Hyperactivity OMIM:618362
Gand Syndrome
Inappropriate laughter, Hyperactivity, Blepharophimosis, Narrow palpebral fissure, Tics OMIM:615074
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Chorea, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysph... ORPHA:500180
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Gait ataxia, Hyperactivity, Dysmetria OMIM:618090
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Downslanted palpebral fissures, Telecanthus, Almond-shaped palpebral fissure, Aggressive behavior... OMIM:620292
Juvenile Huntington Disease
Chorea, Gait ataxia, Hyperactivity, Ataxia, Dystonia, Progressive cerebellar ataxia ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity, Synophrys OMIM:615541
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Telecanthus, Upslanted palpebral fissure, Aggressive behavior, Epicanthus, Hyperactivity OMIM:615286
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Pain insensitivity, Upslanted palpebral fissure, ... OMIM:600430
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Polyphagia, Motor stereotypy, Hyperactivity, Atax... ORPHA:228402
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... OMIM:618718
Chromosome Xq13 Duplication Syndrome
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Upslanted palpebral fissu... OMIM:301069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Ptosis, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Upslanted palpebral fissure, Hyper... OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Downslanted palpebral fissures, Self-mutilation, Stereotypical hand wri... ORPHA:163681
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Highly arched eyebrow, Stereotypical body rocking, Thick eyebrow, Tongue thrusting, Hyperactivity... OMIM:617865
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... OMIM:617600
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Gait ataxia, Intention tremor, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Dysdiadocho... OMIM:610217
Microcephaly 29, Primary, Autosomal Recessive
Thick eyebrow, Hyperactivity, Ataxia OMIM:620047
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Obsessive-compulsive trait, Tremor, Motor tics, Hyperactivity, Ataxia... OMIM:234200
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity, Agitation ORPHA:99819
Histidinemia
Hyperactivity ORPHA:2157

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 Aadat

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 Aadat.

No publications found that use IMPC mice or data for Aadat.

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MGI Allele Allele Type Produced
Aadattm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aadattm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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