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
Decreased nerve conduction velocity, Intention tremor, Ataxia, Sensorineural hearing impairment, ... OMIM:612674

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

Disease Similarity of
Matching phenotypes Source
Episodic Ataxia With Slurred Speech
Muscle weakness, Tremor, Gait ataxia, Slurred speech ORPHA:401953
Episodic Ataxia, Type 8
Muscle weakness, Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Abno... OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Gait disturbance, Ataxia, Proximal muscle weakness, Distal muscle weakness, Gowers sign, Sensorin... OMIM:617882
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Impaired pain sensation, Gait disturbance, Ataxia, Distal muscle weakness, Hearing impair... ORPHA:101078
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Spinocerebellar Ataxia Type 35
Neck muscle weakness, Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progr... ORPHA:276193
Spinocerebellar Ataxia 35
Neck muscle weakness, Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intenti... OMIM:613908
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Distal muscle weakness, Dysmetria, Distal sensory impairment, Elevat... OMIM:618387
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Tremor, Abnormal nerve conduction velocity, Paraparesis, Gait disturbance, Ataxi... ORPHA:99014
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive sensorineural hearing impairment, Muscle weakness, Episodic ataxia, Gait ataxia, Trun... OMIM:601338
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Distal muscle weakness, Hearing impairment, Abnormal auditory evoked potentials... OMIM:601455
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Increased serum pyruvate, Ataxia, Sensorineural hearing impairment, Myoclonus, S... OMIM:545000
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Hearing impairment, Impaire... ORPHA:101075
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Impaired t... ORPHA:206448
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Apraxia, Vestibular dysfunction, Attention deficit hyperacti... ORPHA:52368
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Impaired proprioception, Paresthesia, Impaired vibratory sensat... ORPHA:101085
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Muscle weakness, Tremor, Ataxia, Hearing impairment, Ophthalmoplegia, Dysmetria, Babinski sign, T... OMIM:618170
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Hearing impairment, Ophthalmoplegia, Optic atrophy, Abnormality of the autonomic nervous ... ORPHA:1186
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Distal muscle weakness, Progressive cerebe... ORPHA:504476
Aminoacylase 1 Deficiency
Muscle weakness, Sensorineural hearing impairment, Hyperactivity OMIM:609924
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Vertigo, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykin... ORPHA:101110
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Stereotypy, Hyperprolinemia, Hyperactivity OMIM:239500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Transient hyperphenylalaninemia, Oculomotor apraxia, Ataxia, Hyperactivity, Cho... OMIM:612716
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Sensorineural hearing impairment, Abnorm... ORPHA:99027
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Clu... ORPHA:228360
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Reticulocytosis, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Muscle weakness, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordinati... OMIM:615157
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Spastic paraplegia, Temporal optic disc pallor, Ataxia, Progressive ... ORPHA:1215
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Mildly elevat... ORPHA:401768
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Ankle clonus, Pancytopenia, Thrombocytopenia,... OMIM:159550
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Tay-Sachs Disease
Dystonia, Clumsiness, Distal upper limb muscle weakness, Gliosis, Poor fine motor coordination, L... ORPHA:845
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Muscle weakness, Inability to walk, Tremor, Low-set ears, EEG abnormality, Stereotypy, Hyperactiv... OMIM:618718
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Hyperac... OMIM:617302
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Distal muscle... OMIM:617633
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... ORPHA:276198
Spinocerebellar Ataxia Type 18
Muscle weakness, Gait ataxia, Head tremor, Somatic sensory dysfunction, Hearing impairment, Titub... ORPHA:98771
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Pelizaeus-Merzbacher Disease, Classic Form
Dystonic gait, Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty wa... ORPHA:280219
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Chorea, Hyperto... ORPHA:13
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:760
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Reduced dihydropyrimidine dehydrogenase level, Hyperactivity, Tetraplegia, ... OMIM:274270
Friedreich Ataxia
Muscle weakness, Inability to walk, Decreased motor nerve conduction velocity, Gait ataxia, Dysto... ORPHA:95
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Hypsarrhythmia, Chorea, Spasticity, Multifocal ... ORPHA:88616
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Intention tremor, Ataxia, Sensorineural hearing impairment, ... OMIM:612674
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Involuntary movements, Dyssynergia, Limb ataxia,... ORPHA:101
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Hypochromic microcytic anemia, Sideroblastic anemia, Babinski sign, Intention... OMIM:301310
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Lethal Ataxia With Deafness And Optic Atrophy
Neck muscle weakness, Muscle weakness, Decreased motor nerve conduction velocity, EEG with focal ... ORPHA:1187
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Tinnitus, Spasticity OMIM:617691
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Stereotypy, Hyperactivity OMIM:609425
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic microcytic anemia... ORPHA:3240
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, EEG with temporal focal s... ORPHA:98818
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperkinetic movements, Decreased suc... OMIM:271980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hype... ORPHA:363400
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, S... OMIM:609727
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerat... OMIM:272750
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Infantile Krabbe Disease
Neck muscle weakness, Muscle weakness, Prolonged brainstem auditory evoked potentials, Abnormal e... ORPHA:206436
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Abnormal autonomic nervous... OMIM:614575
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Focal EEG discharges ... ORPHA:3077
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Exaggerated startle response, I... ORPHA:320406
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperglycinemia, Hyperactivity OMIM:605899
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Stereotypy, Macrotia OMIM:615541
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Prolonged neonatal jaundice, Neonatal hyperbilirubin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Prolonged neonatal jaundice, Neonatal hyperbilirubin... ORPHA:529799
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, EEG with polyspike wave complexes, Interictal epileptifo... ORPHA:1942
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Myoclonus, Falls, Hyperactivity ORPHA:2382
Sandhoff Disease
Muscle weakness, Orthostatic hypotension, Impaired temperature sensation, Ataxia, Reduced beta-he... OMIM:268800
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, Low-set ears, EEG abnormality, Babinski sign, Hyperactivity, Spasticity OMIM:617773
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Hypercholesterolemia, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Sotos Syndrome 3
Hyperactivity OMIM:617169
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Increased circulating lactate dehydrogenase concentration, Abnormal p... ORPHA:35069
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Decreased circulating cortisol lev... ORPHA:139396
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Sensorineural hearing impairment, Hyperactivity OMIM:618342
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, EEG with spike-wave complexes, EEG with series of focal sp... ORPHA:168491
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia, EEG with temporal focal spikes ORPHA:163985
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... OMIM:609136
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Hyperphenylalaninemia, H... OMIM:261600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Hemiparesis, Interictal ... ORPHA:1929
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Muscle weakness, Nonspherocytic hemolytic anemia, Sensory ataxia, Impaired neutrophil bactericida... OMIM:613470
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, EEG abnormality, Ataxia, Hyperactivity ORPHA:411515
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Abnormal moto... ORPHA:909
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... ORPHA:43
Tremor, EEG with spike-wave complexes, Clumsiness, Hypoornithinemia, Hypoplastic helices, Hyperam... ORPHA:2203
Cockayne Syndrome Type 1
Tremor, Elevated hepatic transaminase, Increased blood urea nitrogen, Macrotia, Difficulty walkin... ORPHA:90321
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Spasticity, Broad-based gait, Hyperactivity ORPHA:457260
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle ... ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Bradykinesia, Dysmetria, Intention... OMIM:610217
Smith-Magenis Syndrome
Hypercholesterolemia, Morphological abnormality of the middle ear, Abnormality of the outer ear, ... OMIM:182290
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Exaggerated startle response, Torticollis, Limb hypertonia,... OMIM:608643
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Posteriorly rotated ears, Low-set ears, Hearing impairment, Hyp... OMIM:618027
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, EEG with multifocal slow activity, Elevated circulating alkaline phosphatase c... OMIM:616809
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperactivity OMIM:238700
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Abnormal circulating creatine concentration, Aganglionic megacolon,... ORPHA:52503
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral pal... ORPHA:352490
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... ORPHA:485350
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... OMIM:619260
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hearing impairment, Hyperactivity, Tetraplegia, Optic atrophy ORPHA:369939
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, EEG abnormality, EEG with abnormally slow frequencies, Recurrent hand flapping, H... ORPHA:98794
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Developmental And Epileptic Encephalopathy 68
Clonus, Exaggerated startle response, Myoclonus, Spasticity OMIM:618201
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Dystonia, Eyelid apraxia, Rigidity, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:234200
Citrullinemia Type Ii
Hypercholesterolemia, Tremor, Lethargy, Hypoproteinemia, Elevated hepatic transaminase, Acute hyp... ORPHA:247585
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls, Rigidity ORPHA:3198
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Neonatal hyperbilirubinemia, Sensorineural hearing im... ORPHA:73272
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Spasticity, Broad-based gait, Hyperactivity OMIM:300958
Tay-Sachs Disease
Exaggerated startle response, Poor head control, Hypertonia OMIM:272800
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Abnormality of the pinna, Hyperactivity OMIM:300354
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Rigidity, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Low-set, poster... ORPHA:521426
Lamb-Shaffer Syndrome
Ataxia, Stereotypy, Upper motor neuron dysfunction, Hyperactivity, Optic atrophy ORPHA:530983
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Elevated circul... ORPHA:2388
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Potocki-Lupski Syndrome
Hypocholesterolemia, Hearing impairment, EEG abnormality, Stereotypy, Hyperactivity OMIM:610883
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
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Macrotia, Ataxia, Multifocal epileptiform discharges, Low-se... ORPHA:369891
Graves Disease, Susceptibility To, 1
Muscle weakness, Hyperactivity OMIM:275000
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Low-set ears, Opisthotonus, Myoclonus, Hyperactivity, Spasticity OMIM:103050
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Frequent falls, Myoclonus OMIM:149400
Cockayne Syndrome A
Muscle weakness, Tremor, Gait disturbance, Abnormality of the pinna, Ataxia, Abnormal auditory ev... OMIM:216400
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Involuntary movements, Incoordination, Chorea, Ataxia, Sensorineur... ORPHA:209905
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia, Frequent falls, Myoclonic spasms, Rigidity OMIM:184850
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, EEG abnormality, Hyperactivity, Broad-based gait OMIM:105830
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Protruding ... ORPHA:166108
Arthrogryposis, Distal, Type 2A
Muscle weakness, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Sensorineural hearing impairment, Hyperactivity OMIM:600430
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Spasticity, Hyperactivity OMIM:615286
Asparagine Synthetase Deficiency
Exaggerated startle response, Spastic tetraplegia, Macrotia, Hypsarrhythmia OMIM:615574
13Q12.3 Microdeletion Syndrome
Hyperactivity, Hearing impairment, Chronic otitis media, Impaired pain sensation ORPHA:412035
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Splenomegaly, Hyperactivity OMIM:252900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Spasticity OMIM:618367
Cockayne Syndrome B
Muscle weakness, Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, S... OMIM:133540
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Ataxia, Posteriorly rotated ears, Low-set ears, Hyperactivity, Spasticity OMIM:618430
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia OMIM:619239
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Low-set ears, Microtia, Hyperactivity OMIM:618089
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Hyperactivity OMIM:601853
Fragile X Syndrome
Hyperactivity, Macrotia OMIM:300624
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Stereotypy, Macrotia ORPHA:391307
Early Infantile Epileptic Encephalopathy
Episodic ataxia, EEG with spike-wave complexes, Tremor, Uni- and bilateral multifocal epileptifor... ORPHA:1934
Gm1 Gangliosidosis Type 1
Macrotia, Low-set ears, Hearing impairment, Exaggerated startle response, Decreased beta-galactos... ORPHA:79255
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Abnormal pyramidal sign, Post... OMIM:617527
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Hyperactivity OMIM:252920
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Abnormality of the pinna, Low-set ears, Hearing impairment, Steno... OMIM:123450
Pediatric-Onset Graves Disease
Tremor, Elevated hepatic transaminase, Hyperkinetic movements, Neutropenia in presence of anti-ne... ORPHA:525731
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Mend Syndrome
Low-set ears, Hypertonia, Hyperactivity OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia OMIM:300486
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Limb hypertonia, Abnormal auditory evoked potentials... ORPHA:401973
16P11.2P12.2 Microdeletion Syndrome
Tics, Chronic otitis media, Abnormality of the pinna, Low-set ears, Hearing impairment, Impaired ... ORPHA:261211
Angelman Syndrome
Inability to walk, Tremor, Ataxia, EEG abnormality, Tongue thrusting, Recurrent hand flapping, Hy... ORPHA:72
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Low-set ears, Exaggerated startle response, Clonus, Optic atrophy OMIM:617301
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Low-set ears, External ear malformation, Sensorineural hearing imp... ORPHA:254346
Mucopolysaccharidosis, Type Iiid
Low-set ears, Hearing impairment, Splenomegaly, Hyperactivity OMIM:252940
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Splenomegaly, Hyperactivity OMIM:252930
Joubert Syndrome 1
Oculomotor apraxia, Ataxia, Low-set ears, Hemifacial spasm, Hyperactivity, Poor head control, Opt... OMIM:213300
X-Linked Intellectual Disability, Cabezas Type
Tremor, EEG abnormality, Hyperactivity, Abnormality of earlobe, Broad-based gait ORPHA:85293
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Low-set ears, Unsteady gait, Protruding ear, Dysmetria, Hyperact... OMIM:614756
Trisomy 10P
Low voltage EEG, Macrotia, Poor motor coordination, EEG with burst suppression, Posteriorly rotat... ORPHA:171929
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Fatigable weakness of swallowing muscl... ORPHA:581
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscle weakness, Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinas... OMIM:253800
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Broad-based gait OMIM:609625
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Recurrent otitis media, Recurrent hand flapping, Hyperactivity, Stereotypy, Attention d... ORPHA:449291
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Hyperactivity, Abnormality of the optic disc OMIM:617516
Hyperammonemia, Spastic paraparesis, Progressive spastic quadriplegia, Hyperargininemia, Spastic ... OMIM:207800
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Respiratory insufficiency due to mus... ORPHA:239
Bone Marrow Failure Syndrome 3
Pancytopenia, Cupped ear, Hearing impairment, Acute myeloid leukemia, Aplastic anemia, Hyperactivity OMIM:617052
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Pain insensitivity, Abnormal autonomic nervou... OMIM:256800
Intellectual Disability-Strabismus Syndrome
Macrotia, Recurrent otitis media, Gait disturbance, Low-set ears, Hearing impairment, Hyperactivi... ORPHA:363528
16P12.1P12.3 Triplication Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Large earlobe, Hyperactivity ORPHA:485405
Brooks-Wisniewski-Brown syndrome
Poor coordination, Spastic diplegia, Posteriorly rotated ears, Cupped ear, Low-set ears, Protrudi... OMIM:300612
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Speech apraxia, Abnormality of the pinna, Hyperactivity, Macrotia OMIM:618505
White-Sutton Syndrome
Incoordination, Abnormality of the outer ear, Posteriorly rotated ears, Sensorineural hearing imp... ORPHA:468678
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
7Q11.23 Microduplication Syndrome
Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Chronic otitis media, Hearing... ORPHA:96121
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
47,Xyy Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Low-set ears, Thrombocytopenia, Microtia, Tongue thrusting, Hyperactivity... ORPHA:261323
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Difficulty walking, Pain insensitivity, Too... ORPHA:642
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hypertonia, Low-set ears, Lower limb spasticity, Protruding ear, Stereotypy, Hype... ORPHA:447997
Glass Syndrome
Low-set ears, Broad-based gait, Hyperactivity OMIM:612313
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Low-set ears, Sensorineural hearing impairment, Hypoalbuminemia, H... OMIM:235510
Nijmegen Breakage Syndrome
T lymphocytopenia, Macrotia, Autoimmune hemolytic anemia, Glioma, Thrombocytopenia, B lymphocytop... OMIM:251260
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hyperhistidinemia, Hyperactivity ORPHA:2157
Distal Trisomy 17Q
Accessory spleen, Bilateral sensorineural hearing impairment, Low-set, posteriorly rotated ears, ... ORPHA:3379
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Decreased serum iron, Exaggerated startle res... ORPHA:438213
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis Type 2
Otosclerosis, Conductive hearing impairment, Papilledema, Sensorineural hearing impairment, Splen... ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Posteriorly rotated ears, Cupped ear, Hearing impairment, Pr... OMIM:309590
Monosomy 22Q13.3
Hyperactivity, Hearing impairment, Macrotia, Impaired pain sensation ORPHA:48652


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
Abhd12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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