Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
unc-79 homolog
Synonyms:
Mlca3,  9030205A07Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Unc79 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Unc79 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Dystonia 16
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... ORPHA:210571
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Death in childhood, Lethargy OMIM:618683
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Small for gestational age, Choreoathetosis, Rigidity, Bradykinesia, Tremor, ... OMIM:261640
Pyknoachondrogenesis
Stillbirth OMIM:265880
Dystonia 16
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... OMIM:612067
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait a... ORPHA:71517
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Lethargy ORPHA:30925
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... ORPHA:53351
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... OMIM:618824
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Lower limb spasticity, B... ORPHA:100984
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Atax... OMIM:607136
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Huntington Disease
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Polyphagia... ORPHA:399
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, A... OMIM:617435
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... ORPHA:13
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykines... OMIM:606159
Kufor-Rakeb Syndrome
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... OMIM:606693
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... OMIM:617225
Central Diabetes Insipidus
Failure to thrive, Weight loss, Polydipsia, Lethargy ORPHA:178029
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuf... ORPHA:289560
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism ORPHA:412066
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Small for gestational age, Rigidity, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomo... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradyk... ORPHA:98755
Parkinson Disease 20, Early-Onset
Dystonia, Dysphagia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Parkinsonism, Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesi... OMIM:300055
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Dysphagia, Bradykinesia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Weight lo... ORPHA:157941
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Machado-Joseph Disease
Dystonia, Dysphagia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Brady... OMIM:109150
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Neuroferritinopathy
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... ORPHA:157846
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... ORPHA:75567
Autosomal Recessive Progressive External Ophthalmoplegia
Dysphagia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Parkinsonism with favorable response ... ORPHA:254886
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Gerstmann-Straussler Disease
Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Park... OMIM:137440
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Dystonia, Bradykinesia, Spastic tetraparesis OMIM:614924
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemip... ORPHA:225147
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting... OMIM:168601
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Truncal obesity, Polyphagia OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... ORPHA:171695
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Spinocerebellar Ataxia Type 8
Dystonia, Dysphagia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Spasticity, Unsteady gai... ORPHA:98760
Childhood-Onset Nemaline Myopathy
Clumsiness, Slender build, Bradykinesia, Waddling gait, Neuromuscular dysphagia, Difficulty walking ORPHA:171439
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Parkinson Disease, Late-Onset
Dystonia, Dysphagia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait... OMIM:168600
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Difficulty walking, Bradykinesia ORPHA:171442
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Bradykinesi... ORPHA:97349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dysphagia, Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia OMIM:258450
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Rigidity, Frequent falls, Weight loss, Shuffling gait, Bradykinesia, Parkins... ORPHA:411602
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... OMIM:300623
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Manganese Poisoning
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Spinocerebellar Ataxia Type 13
Clumsiness, Dysphagia, Torticollis, Myoclonus, Bradykinesia, Titubation, Gait ataxia, Limb ataxia... ORPHA:98768
Familial Cold Urticaria
Polydipsia ORPHA:47045
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactiv... OMIM:610217
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... ORPHA:199351
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Inability ... ORPHA:778
Teratoma, Pineal
Polydipsia OMIM:273120
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia OMIM:304800
Dravet Syndrome
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... ORPHA:33069
East Syndrome
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking ORPHA:199343
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dysphagia, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, A... OMIM:234200
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Polyphagia OMIM:275000
Cystinosis
Failure to thrive, Gait disturbance, Polydipsia ORPHA:213
Ochoa Syndrome
Polydipsia ORPHA:2704
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retroco... OMIM:601104
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Kufor-Rakeb Syndrome
Parkinsonism, Gait disturbance, Dysphagia, Babinski sign, Lingual dystonia, Rigidity, Eyelid apra... ORPHA:306674
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Supranuclear Palsy, Progressive, 2
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Brad... OMIM:609454
Bardet-Biedl Syndrome 17
Obesity, Polydipsia OMIM:615994
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia ORPHA:320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicatio... OMIM:157640
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkins... ORPHA:93256
Nephrogenic Diabetes Insipidus
Failure to thrive, Polydipsia ORPHA:223
Nephronophthisis 4
Polydipsia OMIM:606966
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Morm Syndrome
Hyperactivity ORPHA:75858
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Renal Hypoplasia
Small for gestational age, Polydipsia ORPHA:93101
Gitelman Syndrome
Chondrocalcinosis, Polydipsia, Failure to thrive, Salt craving, Ataxia OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia OMIM:612780
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Nephronophthisis 3
Polydipsia OMIM:604387
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Dysphagia, Rigidity, Frequent falls, Failure to thrive, Abnormality of extrapyr... ORPHA:254892
Whipple Disease
Ataxia, Cachexia, Polydipsia ORPHA:3452
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Nephronophthisis 1
Polydipsia OMIM:256100
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity ORPHA:2828
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Lethargy OMIM:274270
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia OMIM:239200
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... ORPHA:157946
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Septo-Optic Dysplasia Spectrum
Obesity, Polydipsia ORPHA:3157
Oligomeganephronia
Congenital diaphragmatic hernia, Small for gestational age, Polydipsia ORPHA:2260
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal eating behavior ORPHA:101039
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... ORPHA:309854
Histidinemia
Hyperactivity ORPHA:2157
Nephronophthisis 11
Polydipsia OMIM:613550
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... ORPHA:2388
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Joint contracture of the hand, Arthrogryposis multiplex congenita, Ing... ORPHA:352490
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Brain-Lung-Thyroid Syndrome
Dystonia, Abnormal drinking behavior, Failure to thrive, Falls, Abnormal eating behavior, Hyperac... ORPHA:209905
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hypomagnesemia 3, Renal
Failure to thrive, Polydipsia OMIM:248250
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Helix Syndrome
Polydipsia OMIM:617671
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Parathyroid Carcinoma
Dysphagia, Chondrocalcinosis, Polydipsia, Weight loss, Lipoma ORPHA:143
Erdheim-Chester Disease
Ataxia, Weight loss, Polydipsia ORPHA:35687
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Choking episodes, Hyperactivity, Ataxia, Flexion contracture, Unstead... ORPHA:35069
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Small for gestational age, Failure to thrive OMIM:610883
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Polydipsia ORPHA:84081
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... ORPHA:363400
Infantile Nephropathic Cystinosis
Failure to thrive, Polydipsia ORPHA:411629
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Hyperactivity, Dysphagia, Congenital finger flexio... ORPHA:166108
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Abnormal eating behavior, Ataxia, Hyperactivity, Broad-based gait, Obe... ORPHA:98794
Toxic Epidermal Necrolysis
Weight loss, Dysphagia, Polydipsia ORPHA:537
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Panhypophysitis
Polydipsia ORPHA:95513
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Wolfram Syndrome
Ataxia, Polydipsia ORPHA:3463
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Gand Syndrome
Hyperactivity OMIM:615074
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Chondrocalcinosis, Lipoma, Polydipsia ORPHA:99880
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Polydipsia ORPHA:769
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Distal Renal Tubular Acidosis
Failure to thrive, Polydipsia ORPHA:18
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dysphagia, Hernia OMIM:252930
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Juvenile Nephropathic Cystinosis
Failure to thrive, Polydipsia ORPHA:411634
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity OMIM:615286
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dysphagia, Failure to thrive in infancy, Polydipsia OMIM:219800
Proximal Renal Tubular Acidosis
Failure to thrive, Enamel hypomineralization, Polydipsia ORPHA:47159
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Chondrocalcinosis, Small for gestational age, Polydipsia OMIM:241200
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Dysphagia, Flexion contracture OMIM:252940
Gitelman Syndrome
Failure to thrive, Salt craving, Chondrocalcinosis, Polydipsia ORPHA:358
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait OMIM:300958
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysphagia, Dysmetria, Hamstring contractures, Hyperactivity, Inability to walk,... ORPHA:139396
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Citrullinemia Type Ii
Hyperactivity, Decreased body mass index, Abnormal eating behavior, Lethargy ORPHA:247585
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Polydipsia, Polyphagia ORPHA:293987
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... ORPHA:73272
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Angelman Syndrome
Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, Broad-based gait, Obesity ORPHA:72
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Hyperactivity, Bulimia, Ataxia OMIM:300912
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Hyperlysinemia
Dysphagia, Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait ORPHA:2203
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Shuffling gait, Hyperactivity, Flexion contracture, Decreased body weight OMIM:300534
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hyperactivity, Broad-based gait, Camptodactyly of finger, Obesity, Inguinal hernia ORPHA:85293
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
7Q11.23 Microduplication Syndrome
Polyphagia, Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, In... ORPHA:96121
Angelman Syndrome
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait OMIM:105830
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Bone Marrow Failure Syndrome 3
Failure to thrive, Hernia, Amelogenesis imperfecta, Hyperactivity, Enamel hypoplasia OMIM:617052
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Wiedemann-Steiner Syndrome
Failure to thrive, Hyperactivity, Dysphagia ORPHA:319182
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hyperactivity, Dysphagia ORPHA:447997
Coffin-Siris Syndrome
Hyperactivity, Oral aversion, Hernia ORPHA:1465
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas ORPHA:137605
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... OMIM:607721
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Flexion contracture, Small for gestational age OMIM:300612
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Dysphagia, Corneal scarring, Fasciitis, Hyperactivity, Atypical scarring of skin, Difficulty walking ORPHA:642
Early Infantile Epileptic Encephalopathy
Dystonia, Failure to thrive, Hyperactivity, Episodic ataxia, Umbilical hernia ORPHA:1934

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 Unc79

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 Unc79.

No publications found that use IMPC mice or data for Unc79.

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MGI Allele Allele Type Produced
Unc79tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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