Gene Summary

Name:
DNA methyltransferase 3A
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
convulsive seizures Dnmt3atm1b(KOMP)Wtsi HET Early adult 1.49×10-12
preweaning lethality, incomplete penetrance Dnmt3atm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased lean body mass Dnmt3atm1b(KOMP)Wtsi HET Early adult 1.29×10-06
abnormal bone structure Dnmt3atm1b(KOMP)Wtsi HET Early adult 3.95×10-05
increased grip strength Dnmt3atm1a(KOMP)Wtsi HOM Early adult 1.83×10-12
abnormal embryo size Dnmt3atm1b(KOMP)Wtsi HOM E12.5 0.00
increased total body fat amount Dnmt3atm1b(KOMP)Wtsi HET Early adult 2.61×10-05
decreased bone mineral content Dnmt3atm1b(KOMP)Wtsi HET Early adult 6.94×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

34 Images

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

X-ray

XRay Images Skull Lateral Orientation

34 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

35 Images

Adult LacZ

LacZ Images Section

5 Images

Sleep Wake

Wake state (bmp file)

11 Images

Combined SHIRPA and Dysmorphology

Images

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

Images Slit Lamp

3 Images

Electroretinography

Cone waveform (pdf format)

2 Images

Electroretinography

Rod waveform (pdf format)

2 Images

Legacy Phenotype Associated Images

View all 86 images

Human diseases caused by Dnmt3a 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 Dnmt3a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tatton-Brown-Rahman Syndrome
Seizure, Umbilical hernia OMIM:615879
Tatton-Brown-Rahman Syndrome
Seizure, Umbilical hernia, Obesity ORPHA:404443
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Severe short stature OMIM:618724
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Leukemia, Acute Myeloid
OMIM:601626

The table below shows human diseases predicted to be associated to Dnmt3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Bilateral tonic-clonic seizure OMIM:608278
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... ORPHA:101071
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... ORPHA:98820
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... OMIM:618587
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure OMIM:616281
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic seizure with focal onset, Bilatera... OMIM:618856
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal-onset seizur... ORPHA:36387
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... ORPHA:3006
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Status epilepticu... OMIM:619317
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired ... ORPHA:330050
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure, Failure to thrive in infancy OMIM:619065
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Osteopenia ORPHA:529665
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363558
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Familial Infantile Myoclonic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... ORPHA:352582
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:618917
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:485350
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Foxg1 Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Decreased body weight, Status epilepticus, M... ORPHA:561854
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Epileptic spasm, G... OMIM:612164
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Genera... ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure OMIM:300423
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure, Generalized myoclonic seizure, ... ORPHA:464282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Cranial hyperostosis, Overweight, Bilateral tonic-clonic seizure ORPHA:457240
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal to... ORPHA:168491
Spinocerebellar Ataxia 48
Cachexia, Bilateral tonic-clonic seizure OMIM:618093
Amish Lethal Microcephaly
Osteoporosis, Decreased skull ossification, Bilateral tonic-clonic seizure ORPHA:99742
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:301058
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Joint contractures involving the joints of the feet, Bilateral tonic-clonic seizure ORPHA:457205
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... ORPHA:501
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:614559
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Flexion contracture, Bilateral tonic-clonic seizure, Seizure, Inguinal hernia, Failure to thrive,... ORPHA:544503
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Small for gesta... ORPHA:777
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure, Obesity ORPHA:93952
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Pelger-Huet Anomaly
Seizure, Umbilical hernia, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Failure to thrive, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, A... ORPHA:98795
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Distal arthrogryposis, Cachexia, B... ORPHA:42
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Bilateral tonic-clonic seizure, Umbilical ... ORPHA:79351
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure,... ORPHA:268940
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Myoclonus ORPHA:364028
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Bilateral tonic-clonic sei... ORPHA:480864
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:1947
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Arthrogryposis multiplex congenita, Focal-onset seizure, Bilateral tonic-clo... OMIM:618143
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... ORPHA:72
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... ORPHA:395
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Delayed pubic bone ossification, Bilateral tonic-clonic seizure ORPHA:2976
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures ORPHA:98784
X Small Rings
Seizure, Osteoporosis, Reduced bone mineral density, Bilateral tonic-clonic seizure ORPHA:96201
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Eunuchoid habitus, Bilateral tonic... ORPHA:3044
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, Craniosynostosis, Bilateral tonic-clonic seizure, Obesity, Generalized... ORPHA:369837
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasm... ORPHA:457351
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
W Syndrome
Camptodactyly, Bilateral tonic-clonic seizure ORPHA:2804
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal motor seizure, Infantile spasms, Generalized myocl... ORPHA:79241
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Infantile spasms, Bilateral tonic-clonic sei... OMIM:618733
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Osteoporosis, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic se... ORPHA:459070
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, B... ORPHA:99885
Gaucher Disease
Osteolysis, Arthrogryposis multiplex congenita, Bilateral tonic-clonic seizure, Increased bone mi... ORPHA:355
Oliver Syndrome
Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Bilateral tonic-clo... ORPHA:2920
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Seizure, Failure to thrive, Infantile spasms, Generalized myoclon... ORPHA:255210
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Contractures of the joints of the ... ORPHA:513456
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Focal-onset seizure, Camptodactyly, Bilateral tonic-clonic seizure, Seizure,... OMIM:301044
Tubular Renal Disease-Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Tatton-Brown-Rahman Syndrome
Seizure, Umbilical hernia OMIM:615879
Tatton-Brown-Rahman Syndrome
Seizure, Umbilical hernia, Obesity ORPHA:404443
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Severe short stature OMIM:618724
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Leukemia, Acute Myeloid
OMIM:601626

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 Dnmt3a

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 Dnmt3a.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dnmt3atm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dnmt3atm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dnmt3atm1a(KOMP)Wtsi