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Gene: Unc79 MGI:2684729

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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:
unc-79 homolog
Synonyms:
Mlca3,  9030205A07Rik

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 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
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia ORPHA:210571
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia ORPHA:228169
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy OMIM:618683
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Pyknoachondrogenesis
Stillbirth OMIM:265880
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Retr... OMIM:612067
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia OMIM:128235
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... OMIM:616710
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... ORPHA:240103
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... OMIM:618317
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia ORPHA:71517
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
Huntington Disease
Clonus, Involuntary movements, Aggressive behavior, Oral-pharyngeal dysphagia, Rigidity, Chorea, ... ORPHA:399
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cere... ORPHA:248111
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:607136
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus OMIM:619862
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agitation, Dysp... OMIM:617435
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia OMIM:617384
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... OMIM:615528
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with favorable response to ... ORPHA:240085
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Compulsive behaviors, Spastic paraparesis, Motor tics OMIM:615643
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity OMIM:221820
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Babinski sign, ... OMIM:615157
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hype... ORPHA:13
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... OMIM:603516
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Brady... OMIM:137440
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... OMIM:606693
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob... OMIM:300055
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Blepharospasm,... ORPHA:53351
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hemiparesis, Bradykinesia, Truncal ata... OMIM:601338
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Limb hypertonia ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... ORPHA:289560
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition OMIM:168605
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Dysphagia, Limb ata... OMIM:109150
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... OMIM:300623
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Manganese Poisoning
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, Hypertonia... ORPHA:306682
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia, Abnormal pyrami... ORPHA:227510
Nuchal Bleb, Familial
Stillbirth OMIM:257350
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkinsonism with favorable response to dopam... ORPHA:254886
Dravet Syndrome
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... ORPHA:33069
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... OMIM:617854
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Familial Cold Urticaria
Polydipsia ORPHA:47045
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharospas... ORPHA:240071
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... OMIM:609425
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive OMIM:618362
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Neuromuscular dysphagia ORPHA:171442
Teratoma, Pineal
Polydipsia OMIM:273120
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... OMIM:618877
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Childhood-Onset Nemaline Myopathy
Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fine motor coordination, Slender build ORPHA:171439
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... ORPHA:75567
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Dysph... ORPHA:225147
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... ORPHA:240094
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Inappropriate behavior, Parkinsonism ORPHA:412066
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Bradykinesia, Dysphagia ORPHA:228346
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... ORPHA:171695
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dysphagia, Spasticity ORPHA:98760
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Rigidity, Weight loss, Bradykinesia, Agitation, Dyspha... ORPHA:411602
Ochoa Syndrome
Polydipsia ORPHA:2704
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Gait ataxia, Clumsiness, Titubation, Bradykinesia, Myoclonus, Dysphagia ORPHA:98768
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... OMIM:610217
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:168600
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Dysphagia, Gait ataxia, Limb ataxia, Bradykinesia, Truncal... OMIM:258450
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Failure to thrive, Self-mutilation OMIM:604317
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia ORPHA:223
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms ORPHA:213
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Failure to thrive OMIM:274270
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... OMIM:617013
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Blepharospasm, Bradykinesia, Dysphagia ORPHA:683
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dysphagia OMIM:168601
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:615530
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Nephronophthisis 4
Polydipsia OMIM:606966
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive ORPHA:320
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Rett Syndrome
Limb apraxia, Bradykinesia, Agitation, Failure to thrive, Abnormal repetitive mannerisms, Stereot... ORPHA:778
Secondary Non-Traumatic Avascular Necrosis
Abnormality of connective tissue, Addictive alcohol use ORPHA:399180
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... OMIM:234200
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Spasticity ORPHA:2828
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, D... OMIM:157640
Nephronophthisis 1
Polydipsia OMIM:256100
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:261600
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... OMIM:620141
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Compulsive behaviors, Dysph... ORPHA:93256
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth OMIM:183300
Nephronophthisis 3
Polydipsia OMIM:604387
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Aggressive behavior OMIM:615286
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive OMIM:239200
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Nephronophthisis 11
Polydipsia OMIM:613550
Whipple Disease
Cachexia, Polydipsia, Anorexia ORPHA:3452
Gitelman Syndrome
Failure to thrive, Polydipsia, Salt craving, Chondrocalcinosis OMIM:263800
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Oligomeganephronia
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia ORPHA:2260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... ORPHA:254892
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, A... OMIM:614104
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Dysphagia, Aggressive behavior ORPHA:500180
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Failure to thrive, Spastic tetraparesis OMIM:614924
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Helix Syndrome
Polydipsia OMIM:617671
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Parathyroid Carcinoma
Weight loss, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis ORPHA:143
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia OMIM:609454
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tongue thrusting, Pica, Stereotypical body rocking, Tics, Failure to thrive OMIM:617865
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... OMIM:620242
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411629
Panhypophysitis
Polydipsia ORPHA:95513
Erdheim-Chester Disease
Polydipsia, Weight loss ORPHA:35687
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Polydipsia, Chondrocalcinosis, Dysphagia ORPHA:99880
Brain-Lung-Thyroid Syndrome
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... ORPHA:209905
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Dysphagia OMIM:601104
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Polydipsia ORPHA:769
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:18
Isolated Osteopoikilosis
Keloids, Addictive alcohol use ORPHA:166119
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Marchiafava-Bignami Disease
Addictive alcohol use, Aggressive behavior ORPHA:221074
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411634
Wolfram Syndrome
Polydipsia ORPHA:3463
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Proximal Renal Tubular Acidosis
Failure to thrive, Polydipsia, Enamel hypomineralization ORPHA:47159
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Histidinemia
Hyperactivity ORPHA:2157
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Failure to thrive, Small for gestational age, Chondrocalcinosis OMIM:241200
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia OMIM:219800
Gitelman Syndrome
Failure to thrive, Polydipsia, Salt craving, Chondrocalcinosis ORPHA:358
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Arima Syndrome
Polydipsia OMIM:243910
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use ORPHA:36238
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use ORPHA:90065
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Porphyria Cutanea Tarda
Addictive alcohol use, Scarring, Corneal scarring ORPHA:101330
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777
Ethylene Glycol Poisoning
Addictive alcohol use ORPHA:31826

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.

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

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