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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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Fraxe Intellectual Disability
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... ORPHA:100973
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Xq25 Microduplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi... ORPHA:521258
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Intellectual Developmental Disorder, Autosomal Dominant 67
Telecanthus, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Chromosome Xq25 Duplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow OMIM:300979
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity OMIM:300928
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Gand Syndrome
Hyperactivity, Narrow palpebral fissure, Tics, Inappropriate laughter, Blepharophimosis OMIM:615074
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity, Dysmetria, Gait ataxia OMIM:618090
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ... ORPHA:500180
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow... OMIM:620292
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dystonia ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Epicanthus, Hyperactivity, Telecanthus, Aggressive behavior, Upslanted palpebral fissure OMIM:615286
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Upslanted palpebra... OMIM:600430
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-inj... ORPHA:228402
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... OMIM:301069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation, Ptosis ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Intellectual Developmental Disorder, X-Linked 107
Upslanted palpebral fissure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive ... OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Skin-picking, Abnormal te... ORPHA:163681
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Stereotypical body rocking,... OMIM:617865
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... OMIM:610217
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia, Thick eyebrow OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Tremor, Phonic tics, Choreoathetosis, Blepharosp... OMIM:234200
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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