banner
Genes Phenotypes Help, News, Blog

Gene: Abhd12 MGI:1923442

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
abhydrolase domain containing 12
Synonyms:
6330583M11Rik,  1500011G07Rik

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 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
phenotypes		 Matching phenotypes Source
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Babinski sign, Opt... OMIM:612674

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Elevated circulating creatine kinase concentration... OMIM:617882
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Upper limb muscl... ORPHA:206443
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... ORPHA:599373
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myocl... OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tre... ORPHA:101078
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Muscle weakness ORPHA:1171
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Incoordination, Hearin... OMIM:616688
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Abnormal auditory evoked potentials, Proximal muscle weakness, Decreased ... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Impaired proprioception, Hand tremor, Gait at... ORPHA:101085
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Facial palsy, Sensorineural hearing impai... OMIM:617519
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... OMIM:239500
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... OMIM:300983
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... OMIM:618718
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ... ORPHA:500180
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... ORPHA:100973
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Loss of ambulation, Basal g... ORPHA:225154
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Gait disturbance, Pr... OMIM:125250
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... OMIM:301107
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Distal muscle weakness, Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Ba... ORPHA:504476
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Acroparesthesia, Somatic sensory dysfunction, Ata... ORPHA:206448
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... ORPHA:382
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... OMIM:601596
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... OMIM:619470
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... ORPHA:845
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te... OMIM:618598
Myopathy With Extrapyramidal Signs
Clonus, Elevated circulating creatine kinase concentration, Tremor, Gowers sign, Chorea, Choreoat... OMIM:615673
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysmetria, Dysdiadochokinesis,... OMIM:617145
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Hyperactivity, EEG with frontal focal spikes, Impulsi... ORPHA:98818
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Dysmetria, Limb ataxia, Hand tremor, Dysphagia, T... ORPHA:276198
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Decreased succinic semialdehyde dehydrogenase level, ... OMIM:271980
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Poor head control, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, D... ORPHA:13
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Ataxia, Limb-girdle mu... ORPHA:1215
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls, Tinnitus OMIM:617691
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole... OMIM:277460
Pelizaeus-Merzbacher Disease, Classic Form
Poor head control, Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, ... ORPHA:280219
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen... OMIM:617302
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Friedreich Ataxia
Decreased motor nerve conduction velocity, Dystonia, Impaired visually enhanced vestibulo-ocular ... ORPHA:95
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Focal EEG d... ORPHA:3077
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Vertigo, Slurred speech, Dysmetria, Dysphagia, Progressive cerebellar ata... OMIM:183086
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Hypouricemi... ORPHA:760
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Myoc... ORPHA:2382
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus OMIM:605899
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Poor head control, Hyperactivity, Ataxia, EEG with burst suppr... OMIM:619913
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Poor head control, Lower limb spasticity, Abnorma... ORPHA:206436
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Ataxia, Spastic tetraparesis, Impulsivity, Cerebellar gliosis, Unsteady ... ORPHA:35069
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Clonus, Proximal muscle weakness, Aggressive behavior, U... OMIM:617773
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... OMIM:609727
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... ORPHA:320406
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:529808
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Babinski sign, Opt... OMIM:612674
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:529799
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Reduced beta-hexosaminidase activi... OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma... OMIM:272750
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Aggressiv... OMIM:261600
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia ORPHA:163985
Rasmussen Subacute Encephalitis
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ... ORPHA:1929
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Hyperactivity, Ataxia, Aggressive behavior... ORPHA:168491
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Chorea... ORPHA:52503
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... ORPHA:1942
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Spastic tetraple... OMIM:617864
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Decreased circulating cortisol level, Hyperactivity, Ataxia, Spastic tetra... ORPHA:139396
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal motor evoked potentials, Gliosis, Ataxia, Parkinsonism, Gait di... ORPHA:909
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormal repetitive mannerisms, Sel... OMIM:182290
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Distal muscle weakness, Aganglionic megacolon, ... OMIM:609136
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment ORPHA:457260
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:610217
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,... OMIM:609541
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... OMIM:614104
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia OMIM:222765
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, EEG with generalized polyspikes, Ag... ORPHA:163681
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Low-... OMIM:103050
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... OMIM:608643
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Absent brainstem auditory responses, Lower limb spasticity, Ataxia... ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Poor head control, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Mic... OMIM:616977
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... ORPHA:2388
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hearing impairment OMIM:620114
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Hyperactivity, Poor motor... ORPHA:2203
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Optic atrophy, Spasti... OMIM:617281
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Tay-Sachs Disease
Poor head control, Hypertonia, Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Bulbar palsy, Exaggerated startle response, Rigidity, Sensorin... ORPHA:521426
Sandhoff Disease, Infantile Form
Exaggerated startle response, Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Myoclonus... ORPHA:309155
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia OMIM:184850
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Hearing impairment, Tremor, Fasciculations, Limb hypertonia OMIM:620327
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Limb tremor, Clumsiness, EEG abnormality, Progressive ga... OMIM:105830
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abnormal eating behavior,... ORPHA:209905
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia ORPHA:438216
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Bulbar palsy, Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Op... OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Decreased beta-galactosidase activity, Abnormal... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia OMIM:617301
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, EEG with burst suppression,... OMIM:615574
Arthrogryposis, Distal, Type 2A
Muscle weakness, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Early Infantile Epileptic Encephalopathy
Poor head control, Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathet... ORPHA:1934
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:216400
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Trisomy 10P
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration, ... OMIM:253800
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Progressive spastic quadriplegia, Hyperargininemia, Spas... OMIM:207800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Hypsarrhythmia, Protruding... ORPHA:447997
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Hypertonia, Dysphagia, Spasticity, EEG with generalized slow activity OMIM:618367
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Involuntary movement... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522

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 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter