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Gene: Abhd12 MGI:1923442

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Spasticity, Sensorineural hearing impairment, Optic atrophy, Ataxia, Babinski sign, Dysmetria, De... 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
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Muscle weakness, Slurred speech, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Type 4B1
Proximal muscle weakness, Decreased motor nerve conduction velocity, Abnormal auditory evoked pot... OMIM:601382
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Late-Infantile/Juvenile Krabbe Disease
Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Upper limb m... ORPHA:206443
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Sensorineural hearing impairment, Proximal muscle weakness, Gowers sign, Gait disturb... OMIM:617882
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Ataxia, Muscle weakness, Dysphagia, Dystonia ORPHA:1171
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Hyperactivity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hype... OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Proximal muscle weakne... OMIM:616688
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Impaired pain sensation, Distal muscle weakness, Tremor, Decreased nerv... ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Spinocerebellar Ataxia Type 35
Gait ataxia, Ophthalmoplegia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dy... ORPHA:276193
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Optic atrophy, Inability to walk, Babinski sign, Dys... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Inability to walk, Optic nerve hypoplasia, Steppage gait, Unsteady g... ORPHA:101085
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Distal muscle weakness, Decreased nerve co... OMIM:601455
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, EEG abno... ORPHA:206448
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Impaire... ORPHA:99014
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Ophthalmoplegia, Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance... OMIM:125250
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Dysphagia, Upper limb ... ORPHA:225154
Charcot-Marie-Tooth Disease, Type 4C
Proximal muscle weakness, Decreased motor nerve conduction velocity, Distal muscle weakness, Diff... OMIM:601596
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Optic atrophy, Babinski sign, ... ORPHA:504476
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalan... OMIM:612716
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology OMIM:300983
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Hyperactivity, Spasticity, Abnormal pyramidal sign, EEG abnormality, Inabili... ORPHA:500180
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Ataxia, EEG abnormality OMIM:239500
Tay-Sachs Disease
Poor fine motor coordination, Optic atrophy, Inability to walk, Hepatosplenomegaly, Frequent fall... ORPHA:845
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor OMIM:618090
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, D... ORPHA:248111
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Proximal muscle weakness, Optic atrophy, Gowers sign, Choreoathetosis, Elevated h... OMIM:615673
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast... OMIM:618598
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Hand tremor, Limb ataxia, Ataxia, Vertigo, Babinski sign, Dysmetr... ORPHA:276198
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Restlessness, Falls, Hyperkinetic movements, Rigidity, Hypsarrhythmia, Oculogyric crisis,... ORPHA:13
Cln5 Disease
Hyperactivity, Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, EEG with focal ... ORPHA:228360
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Hypertonia OMIM:234500
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Spasticity, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... OMIM:616881
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyr... ORPHA:382
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Limb-girdle muscle weakness, Sensorineural hearing impairment, Optic ... ORPHA:1215
Ataxia With Vitamin E Deficiency
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Clumsiness, Gait dist... OMIM:277460
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, EEG abnormality, Inability to walk, Muscle weakness, Tremor, Low-set ears OMIM:618718
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Decreased beta-mannosidase activity OMIM:248510
Friedreich Ataxia
Gait ataxia, Chorea, Poor fine motor coordination, Spasticity, Gait imbalance, Falls, Impaired vi... ORPHA:95
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Spastic tetraparesis, Tremor, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Spinocerebellar Ataxia 6
Truncal ataxia, Incoordination, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Dysmetria, Slu... OMIM:183086
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormal... ORPHA:98818
Optic Atrophy 11
Hyperactivity, Macrotia, Splenomegaly, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasi... OMIM:617302
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... OMIM:619405
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal T cell morphology, Sensorineural hearing impairment, Spasticity, Cerebral... ORPHA:760
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Spasticity, Abnormal pyramidal sign, O... ORPHA:35069
Fraxe Intellectual Disability
Hyperactivity, Clumsiness, Agitation, Prominent ear helix, Impulsivity ORPHA:100973
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Spastic tetraplegia, EEG with polyspike wave complexes, EEG with burst suppression... OMIM:619913
Infantile Krabbe Disease
Spasticity, Ankle clonus, Opisthotonus, Optic atrophy, Spastic diplegia, Myoclonus, Abnormal circ... ORPHA:206436
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, EEG abnormality, Elevated circulating gamma-aminobutyric acid concentration, Ataxi... OMIM:271980
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase... ORPHA:3240
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Sensorineural hearing impairment, Upper limb spasticity, Spastic paraplegia, Babin... OMIM:609727
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Ophthalmoparesis, Truncal ataxia, Involuntary mov... ORPHA:101
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor m... ORPHA:363400
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Reduced dihydropyrimidine dehydrogenase level, Hypertonia, Tetraplegia OMIM:274270
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Spasticity, Proximal muscle weakness, EEG abnormality, Hypsarrhythmia, Babinski si... OMIM:617773
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Myoclonus, Impulsivity, Restlessness OMIM:605899
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Exaggerated star... ORPHA:320406
Lennox-Gastaut Syndrome
Hyperactivity, Falls, EEG abnormality, Myoclonus, EEG with focal sharp slow waves ORPHA:2382
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... OMIM:301008
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Sensorineural hearing impairment, Optic atrophy, Ataxia, Babinski sign, Dysmetria, De... OMIM:612674
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Broad... ORPHA:3077
Sandhoff Disease
Exaggerated startle response, Spasticity, Reduced beta-hexosaminidase activity, Upper motor neuro... OMIM:268800
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, Hemiparesis, Hemidys... ORPHA:1929
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... OMIM:272750
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia ORPHA:163985
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Hyperactivity, Ankle clonus, Limb myoclonus, Inability to walk, Hemiparesis, Oculo... ORPHA:139396
Aminoacylase 1 Deficiency
Muscle weakness, Hyperactivity, Sensorineural hearing impairment OMIM:609924
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Macrotia, Spasticity, Inability to walk, Spastic tetraplegi... OMIM:617864
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Hyperactivity, Spasticity, Dysdiadochokinesis, Optic atrophy, Babinski sign,... OMIM:610217
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal pyramidal sign, EEG with polyspike wave complexes, Interictal epileptifor... ORPHA:1942
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Progressive spastic paraparesis, Progressive hearing ... ORPHA:43
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Ankle clonus, Optic atrophy, Inability to walk, Spastic paraplegia,... OMIM:609541
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Sensorineural hearing impairment, Spastic tetraplegia, Absent brainstem auditory resp... OMIM:609136
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia OMIM:222765
Abcd Syndrome
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Polyc... OMIM:600501
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, S... ORPHA:909
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
X-Linked Creatine Transporter Deficiency
Chorea, Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration... ORPHA:52503
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Limb hypertonia, Agitation, Truncal titubation, Dysmet... OMIM:618056
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Spasticity, Hyperactivity, Hearing impairment, Broad-based gait ORPHA:457260
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Tetraparesis, Opti... OMIM:619260
Cockayne Syndrome Type 1
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... ORPHA:90321
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Inability to walk, Rigidity, Choreoathetosis, Hypertonia OMIM:620023
Hyperlysinemia
Hyperlysinemia, Hyperactivity, Hypoornithinemia, Hypoplastic helices, Tip-toe gait, Spastic diple... ORPHA:2203
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Hyperactivity, EEG with generalized slow activity grade 4, EEG with series of... ORPHA:168491
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Myoclonus, Clonus OMIM:618201
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... ORPHA:309246
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment, Inability to walk OMIM:620114
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Tetraplegia, Hearing impairment ORPHA:369939
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Microtia, Ataxia, Impulsivity, Attached earlobe, Poor head control, Dystonia OMIM:616977
Tay-Sachs Disease
Poor head control, Exaggerated startle response, Hypertonia OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... OMIM:608643
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, EEG abnormality, Myoclonus, Ataxia, EEG with abnormally slow frequ... ORPHA:98794
Sandhoff Disease, Infantile Form
Exaggerated startle response, Spasticity, Reduced beta-hexosaminidase activity, Myoclonus, Hepato... ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Limb hypertonia, R... ORPHA:521426
Citrullinemia Type Ii
Hypercholesterolemia, Hyperactivity, Elevated hepatic transaminase, Acute hyperammonemia, Tremor,... ORPHA:247585
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Frequent falls OMIM:617523
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Spastic tetraplegia, Limb hypertonia, EEG with burst supp... OMIM:615574
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Hyperekplexia 2
Exaggerated startle response, Myoclonus, Hypertonia OMIM:614619
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Spasticity, Inability to walk, Myoclonus, Hemiplegia, Low-set ears, O... OMIM:103050
Hyperekplexia 3
Exaggerated startle response, Myoclonus, Hypertonia OMIM:614618
Brain-Lung-Thyroid Syndrome
Chorea, Hyperactivity, Sensorineural hearing impairment, Falls, Involuntary movements, Apraxia, C... ORPHA:209905
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, External ear malformation, Dystonia, Broad-based gait ORPHA:438216
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Bradykinesia, Spasticity, Optic atrophy, Akinesia, Abnormal pyramid... OMIM:234200
Hyperekplexia 1
Exaggerated startle response, Frequent falls, Myoclonus, Hypertonia OMIM:149400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal pyramidal sign, Optic atrophy, Rigidity, Abnormality of ex... OMIM:617527
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Pitt-Hopkins-Like Syndrome 1
Spasticity, Hyperactivity, EEG abnormality, Ataxia, Attention deficit hyperactivity disorder OMIM:610042
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Exaggerated startle response OMIM:618367
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Macrotia, Spasticity, Decreased beta-galactosidase activity, Abnorm... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Clonus, Hypertonia, Dysphagia, Low-set ears OMIM:617301
Choreoacanthocytosis
Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Elevated circulating ... ORPHA:2388
Arthrogryposis, Distal, Type 2A
Muscle weakness, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized epileptiform discharges, Cerebral palsy, EEG with focal spike... ORPHA:163681
Angelman Syndrome
Hyperactivity, EEG abnormality, Progressive gait ataxia, Clumsiness, Limb tremor, Broad-based gait OMIM:105830
Early Infantile Epileptic Encephalopathy
Hyperactivity, Spasticity, EEG abnormality, EEG with burst suppression, Hypsarrhythmia, Myoclonus... ORPHA:1934
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Gait distur... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Mus... OMIM:133540
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... ORPHA:79330
Mend Syndrome
Hyperactivity, Limb hypertonia, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, E... ORPHA:401973
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor... ORPHA:171929
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
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
Argininemia
Hyperactivity, Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Hyperammonemi... OMIM:207800
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Attention deficit hyperactivity disorder, Xanthelasma, O... ORPHA:137605
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Agitation ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Agitation ORPHA:424
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Hyperactivity, Hand tremor, Protruding ear, Ataxia, Short ear, Dysmetria, Poor gross... OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunction, Hyperactivity,... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Anemia, Inability to walk, Involuntary movements, Myoclonus, Decrea... ORPHA:438213
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Exaggerated startle response, Microtia, Attention deficit hyperactivity disorder, ... 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.

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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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