Not currently registered for phenotyping at IMPC

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

Gene Summary

abhydrolase domain containing 12
6330583M11Rik,  1500011G07Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Abhd12 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 Abhd12 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Dysmetria, Intention tremor, Sensorineural hearing impairment, Ataxia, Decreased nerve conduction... OMIM:612674

The table below shows human diseases predicted to be associated to Abhd12 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4B1
Distal muscle weakness, Abnormal auditory evoked potentials, Distal sensory impairment, Decreased... OMIM:601382
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Muscle weakness, Episodic ataxia, Slurred speech OMIM:616055
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... OMIM:609129
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Gowers sign, Sensorineural hearing impairment, Ataxia, Steppage gait, Distal muscle weakness, Ele... OMIM:617882
Late-Infantile/Juvenile Krabbe Disease
Tremor, Frequent falls, Upper motor neuron dysfunction, Hemiplegia, Prolonged brainstem auditory ... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Spasticity, Hypertriglyce... OMIM:615924
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Distal muscle weakness, Gai... ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Somatic sensory dysfunction, Sensorineural hearin... ORPHA:320401
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Neck muscle weakness, Torticollis, Babinski ... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Foot dorsiflexor weakness, Ataxia, Steppage gait, Distal muscle weakness, Gait ataxia,... OMIM:618387
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Mohr-Tranebjaerg Syndrome
Ankle clonus, Abnormality of somatosensory evoked potentials, Abnormal pyramidal sign, Vestibular... ORPHA:52368
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Muscle weakness, Paraparesis... ORPHA:99014
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Optic nerve hypoplasia, Positive Romberg sign, Somatic s... ORPHA:101085
Adult Krabbe Disease
Tetraparesis, Frequent falls, Somatic sensory dysfunction, EEG abnormality, Impaired tactile sens... ORPHA:206448
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Hyperactivity, Inability to walk, Spastic tetraplegia OMIM:616657
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal muscle weakness, Abnormal auditory evoked potentials,... OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Upper limb muscle weakness, Distal muscle weakness, Distal sen... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Poor head control, Facial pal... OMIM:617519
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Transient hyperphenylalaninemia, Hyperactivity, Ataxia, Spasticity, Oc... OMIM:612716
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Sensorineural hearing impairment, Distal muscl... ORPHA:504476
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Aminoacylase 1 Deficiency
Muscle weakness, Sensorineural hearing impairment, Hyperactivity OMIM:609924
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, EEG abnormality, Ataxia OMIM:239500
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Hyperactivity, Inability to walk, Poor gross motor... ORPHA:228360
Adult-Onset Autosomal Dominant Leukodystrophy
Action tremor, Orthostatic hypotension, Muscle weakness, Clonus, Tremor, Dysmetria, Abnormal auto... ORPHA:99027
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Spasticity, Optic atrophy, Tremor OMIM:300983
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidi... ORPHA:248111
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Myopathy With Extrapyramidal Signs
Dystonia, Gowers sign, Clonus, Abnormality of extrapyramidal motor function, Proximal muscle weak... OMIM:615673
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait disturbance, Gait ataxia, Limb ataxia,... OMIM:617145
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Dystonia, Motor stereotypy, Hyperactivity, EEG with gener... ORPHA:88616
Optic Atrophy 11
Dysmetria, Optic atrophy, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Hyperkinetic movement... OMIM:617302
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Tay-Sachs Disease
Dystonia, Lower limb muscle weakness, Distal upper limb muscle weakness, Muscle weakness, Gait di... ORPHA:845
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Muscle weakness, Spasticity, Tremor OMIM:618718
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Limb-girdle muscle weakness, Sensorineural hearing impairment, Spasti... ORPHA:1215
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Vertigo, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal a... ORPHA:276198
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, EEG abnormality, Dystonia, Impaired pain sensation, Hyperactivity, Inabi... ORPHA:500180
Spinocerebellar Ataxia Type 18
Dysmetria, Somatic sensory dysfunction, Head tremor, Muscle weakness, Gait ataxia, Titubation, He... ORPHA:98771
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... ORPHA:280219
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Sensorineural hearing impairment, Autoimmune thromb... ORPHA:760
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased circulating lactate dehydrogenase concentration, Dysmetria, Increased serum pyruvate, A... OMIM:619405
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Landau-Kleffner Syndrome
Frequent falls, Hyperactivity, Steppage gait, Speech apraxia, Gait ataxia, EEG with temporal foca... ORPHA:98818
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Spastic tetraplegia, Head tit... ORPHA:3240
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Dysmetria, Intention tremor, Sensorineural hearing impairment, Ataxia, Decreased nerve conduction... OMIM:612674
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity, Lower limb spastic... OMIM:609727
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Poor mo... ORPHA:363400
Infantile Krabbe Disease
Opisthotonus, Optic atrophy, Hearing impairment, Hyperesthesia, Spastic diplegia, Lower limb spas... ORPHA:206436
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, EEG abnormality, Hyperactivity, Ataxi... OMIM:271980
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Reduced dihydropyrimidine dehydrogenase level, Optic atrophy, Hypertonia OMIM:274270
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Infantile Neuroaxonal Dystrophy
Abnormal pyramidal sign, Spastic tetraparesis, Dystonia, Increased circulating lactate dehydrogen... ORPHA:35069
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Poor head control, Chorea, Ex... OMIM:272750
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Hyperactivity, Lower limb spasticity, Focal EEG dis... ORPHA:3077
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea,... ORPHA:382
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potenti... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials, Prolonged ... ORPHA:529799
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Falls, Myoclonus ORPHA:2382
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Abnormal pyramidal sign, Interictal epileptiform activity, EE... ORPHA:1942
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Optic disc pallo... ORPHA:320406
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated ears, Babinski sign OMIM:617773
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Fasciculations, Ataxia, Impaired temperature sensati... OMIM:268800
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Abnormal circulating fatty-acid concentration, Apraxia, Hyperact... ORPHA:139396
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia, Aganglio... ORPHA:52503
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Portal hypertension, Spastic tetraplegia, Hearing impairment, Sensorineural h... OMIM:609136
Hyperekplexia-Epilepsy Syndrome
Hypertonia, EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with generalized slow activity, Motor stereotypy, EEG with series of foca... ORPHA:168491
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Myoclonus OMIM:605899
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Broad-based gait ORPHA:411515
Cerebrotendinous Xanthomatosis
Dystonia, Paraparesis, Abnormality of extrapyramidal motor function, Somatic sensory dysfunction,... ORPHA:909
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Spastic paraplegia, Optic disc pallor, Exaggerated startle response, Babinski ... OMIM:609541
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Spasticity, Broad-based gait ORPHA:457260
X-Linked Adrenoleukodystrophy
Incoordination, Progressive hearing impairment, Paralysis, Somatic sensory dysfunction, Hyperacti... ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Spasticity, Chor... OMIM:610217
Hyperactivity, Reduced phenylalanine hydroxylase level, Maternal hyperphenylalaninemia, Attention... OMIM:261600
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Lower limb spasticity, Ataxia, Anemia, Macrotia, Abnormality of pe... ORPHA:90321
Spastic tetraparesis, Dysmetria, Opisthotonus, Hyperlysinemia, Hypoplasia of the antihelix, Spast... ORPHA:2203
Smith-Magenis Syndrome
Abnormality of the outer ear, EEG abnormality, Hypercholesterolemia, Impaired pain sensation, Hyp... OMIM:182290
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Lower limb spasticity, Unsteady gait, Progressive cerebellar ataxia, Chorea, Upper... ORPHA:485350
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Coffin-Siris Syndrome 7
Recurrent otitis media, Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Hearing ... OMIM:618027
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Dystonia, Chorea, Exaggerated startle response, Progressive spastic quad... ORPHA:309246
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hyperactivity, Tetraplegia, Optic atrophy, Hearing impairment ORPHA:369939
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Opti... OMIM:619260
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Abnormality of the outer ear,... OMIM:201050
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Ton... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Hyperactivity, Ataxia, Macrotia, Gait disturbance, T... OMIM:614104
Developmental And Epileptic Encephalopathy 68
Spasticity, Clonus, Myoclonus, Exaggerated startle response OMIM:618201
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG abnormality, Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusting, EEG with abnor... ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Hyperactivity, B... OMIM:234200
Tay-Sachs Disease
Hypertonia, Poor head control, Exaggerated startle response OMIM:272800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Spasticity, Broad-based gait OMIM:300958
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Tics, Broad-based gait, Hypertonia OMIM:617865
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Spasticity, Ataxia OMIM:610042
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Stereotypical hand wringing... ORPHA:163681
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, EEG abnormality, Low-set ears, Spastic paraparesis, Hyperactivity, Ataxia, Multif... ORPHA:369891
Stiff Person Spectrum Disorder
Rigidity, Falls, Difficulty walking, Exaggerated startle response ORPHA:3198
Lamb-Shaffer Syndrome
Motor stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Optic atrophy ORPHA:530983
Adenylosuccinase Deficiency
Opisthotonus, Low-set ears, Hyperactivity, Inability to walk, Gait ataxia, Spasticity, Myoclonus OMIM:103050
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Limb hypertonia, Bulbar palsy, Low-set, posteriorly r... ORPHA:521426
Increased circulating lactate dehydrogenase concentration, Phonic tics, Hyperkinetic movements, I... ORPHA:2388
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
Asparagine Synthetase Deficiency
Hypsarrhythmia, Macrotia, Spastic tetraplegia, Exaggerated startle response OMIM:615574
Brain-Lung-Thyroid Syndrome
Incoordination, Dystonia, Choreoathetosis, Intention tremor, Apraxia, Sensorineural hearing impai... ORPHA:209905
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anemia, Rigidity, Exaggerated startle response OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait ORPHA:438216
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, EEG abnormality, Hearing impairment OMIM:610883
Arthrogryposis, Distal, Type 2A
Muscle weakness, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Angelman Syndrome
EEG abnormality, Hyperactivity, Limb tremor, Progressive gait ataxia, Clumsiness, Broad-based gait OMIM:105830
Intellectual Disability, Birk-Barel Type
Hyperactivity, Fatiguable weakness of proximal limb muscles, Tongue fasciculations, Protruding ea... ORPHA:166108
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Pain insensitivity, Hyperactivity OMIM:600430
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Exaggerated startle response OMIM:618367
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Hyperactivity, Chronic otitis media, Hearing impairment ORPHA:412035
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Hyperactivity, Ataxia, Poor coordination, Spasticity, Posteriorly rotated ears OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Recurrent hand flapping OMIM:615516
Graves Disease, Susceptibility To, 1
Muscle weakness, Hyperactivity OMIM:275000
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Choreoathetosis, Uni- and bilateral multifocal epileptiform discharges... ORPHA:1934
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Hyperactivity, Ataxia, Posteriorly rotated ears, Hypertonia OMIM:601853
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Low-set ears, Decreased beta-galactosidase activity, Spasticity, Macrotia, De... ORPHA:79255
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Macrotia, Motor stereotypy ORPHA:391307
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal pyramidal sign, Low-set ears, Bulbar palsy, Rigidity, Posteriorly rotated ears, Babinski... OMIM:617527
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cockayne Syndrome A
Sensorineural hearing impairment, Splenomegaly, Ataxia, Decreased nerve conduction velocity, Musc... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Splenomegaly, Ataxia, Decreased nerve conduction velocity, Musc... OMIM:133540
Pediatric-Onset Graves Disease
Hyperactivity, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Elev... ORPHA:525731
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Clonus, Exaggerated startle response, Optic atrophy, Hypertonia OMIM:617301
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Hyperactivity, Limb hypertonia, Abnormal auditory ev... ORPHA:401973
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory respons... ORPHA:79330
Angelman Syndrome
EEG abnormality, Hyperactivity, Inability to walk, Ataxia, Recurrent hand flapping, Tongue thrust... ORPHA:72
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Impaired pain sensation, Hyperactivity, Tics, Chronic otitis media, Abnormal pinna ... ORPHA:261211
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hearing impairment OMIM:252920
Legius Syndrome
Dystonia, Hearing impairment, Hyperactivity, Xanthelasma, Acute monocytic leukemia, Vestibular sc... ORPHA:137605
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Hearing impairment OMIM:252900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Spasticity, Macrotia OMIM:300486
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Mucopolysaccharidosis Type 3
Abnormal pyramidal sign, Mixed hearing impairment, Vocal cord paresis, Conductive hearing impairm... ORPHA:581
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Hyperactivity, Abnormal earlobe morphology, Broad-based gait, Tremor ORPHA:85293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscle weakness, Elevated circulating creatine kinase concentration, Optic atrophy, Exaggerated s... OMIM:253800
Joubert Syndrome 1
Hemifacial spasm, Low-set ears, Hyperactivity, Ataxia, Optic disc pallor, Poor head control, Ocul... OMIM:213300
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Motor stereotypy, Hyperactivity, Recurrent hand flapping, Macrotia, Atten... ORPHA:449291
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
EEG abnormality, Dystonia, Clonus, Hyperbilirubinemia, Otitis media, Protruding ear, Repetitive c... OMIM:619475
Frequent falls, Spastic gait, Spastic paraparesis, Hyperactivity, Hyperargininemia, Progressive s... OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Dysmetria, Hand tremor, Low-set ears, Hyperactivity, Poor gross motor coordination, At... OMIM:614756
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity, Abnormal autonomic nervous system physiology, Postural hypoten... OMIM:256800
Brooks-Wisniewski-Brown syndrome
EEG abnormality, Cupped ear, Low-set ears, Hyperactivity, Poor coordination, Posteriorly rotated ... OMIM:300612
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Abnormality of the autonomic nervous system, Painless fractures due ... ORPHA:642
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Low-set ears, Motor stereotypy, Hyperactivity, Lower limb spasticity, Hypsarrhy... ORPHA:447997
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Stereotypical hand wringing, Decreased serum iron, Involuntary movements, Inability to ... ORPHA:438213
Hyperactivity, Hyperhistidinemia ORPHA:2157
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response, At... OMIM:619522


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 Abhd12

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 Abhd12.

No publications found that use IMPC mice or data for Abhd12.

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MGI Allele Allele Type Produced
Abhd12tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abhd12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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