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
decreased lean body mass Dnmt3atm1b(KOMP)Wtsi HET Early adult 4.04×10-05
increased grip strength Dnmt3atm1a(KOMP)Wtsi HOM Early adult 1.83×10-12
decreased circulating HDL cholesterol level Dnmt3atm1b(KOMP)Wtsi HET Early adult 1.53×10-06
preweaning lethality, incomplete penetrance Dnmt3atm1b(KOMP)Wtsi HOM   Early adult 0.00
convulsive seizures Dnmt3atm1b(KOMP)Wtsi HET Early adult 1.49×10-12
decreased exploration in new environment Dnmt3atm1b(KOMP)Wtsi HET Early adult 2.07×10-06
decreased circulating cholesterol level Dnmt3atm1b(KOMP)Wtsi HET Early adult 3.10×10-05
abnormal bone structure Dnmt3atm1b(KOMP)Wtsi HET Early adult 3.83×10-05
decreased circulating glucose level Dnmt3atm1b(KOMP)Wtsi HET Early adult 2.22×10-05
increased total body fat amount Dnmt3atm1b(KOMP)Wtsi HET Early adult 3.31×10-05
abnormal embryo size Dnmt3atm1b(KOMP)Wtsi HOM E12.5 0.00

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
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)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 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)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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)
Testis N/A heterozygote 50% (1 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
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)
Embryo N/A homozygote Ambiguous
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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

40 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

X-ray

XRay Images Skull Lateral Orientation

40 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

41 Images

Embryo LacZ

LacZ images wholemount

4 Images

DSS Histology

Images

8 Images

Sleep Wake

Wake state (bmp file)

11 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Anti-nuclear antibody assay

Images

6 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

2 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
Umbilical hernia, Sagittal craniosynostosis, Seizure, Febrile seizure (within the age range of 3 ... OMIM:615879
Tatton-Brown-Rahman Syndrome
Obesity, Seizure, Umbilical hernia ORPHA:404443
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation OMIM:618724
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia 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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Seizure, Hypocholesterolemia, Myoclonus, Clonic seizure, Status epilepticus, Bilatera... OMIM:610539
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Irritability, Tonic seizure, Bilateral ... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Seizure, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abno... ORPHA:263458
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Elevated circulating ... OMIM:617389
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Dravet Syndrome
Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor ... OMIM:607208
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia, Seizure ORPHA:35701
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Mental deterioration, Depression, Myoclonus, Status epilepticus without prominent motor symptoms,... OMIM:204300
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Bilateral tonic-clonic seizure... OMIM:240900
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset ... OMIM:245570
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Elevated circulating alpha-aminoadipic semialdehyde concentration,... OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Dementia OMIM:162350
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Congenital Glucokinase-Related Hyperinsulinism
Seizure, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal cir... ORPHA:79299
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Myoclonic seizure, Hyperglycemia, Reduced C-peptide level, Bilateral to... OMIM:618856
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Generalized non-motor (absence) seizure, Fasting hyperinsulinemia, G... ORPHA:35878
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Emotional lability, Bilateral to... OMIM:615362
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Seizure, Irritability OMIM:240800
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... ORPHA:101046
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Landau-Kleffner Syndrome
Memory impairment, Depression, Non-convulsive status epilepticus without coma, Generalized non-mo... ORPHA:98818
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Generalized non-motor (absence) seizure, Myoclonus, Elevated circulating creat... OMIM:614018
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Myoclonic Epilepsy Of Infancy
Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra... ORPHA:86909
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Seizure OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Seizure, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Lennox-Gastaut Syndrome
Mental deterioration, Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Bi... ORPHA:2382
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Fructose And Galactose Intolerance
Hypoglycemia, Seizure OMIM:229500
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Myoclonus, Attention deficit hyperactivity disorder, Bilateral ... OMIM:619191
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Squalene Synthase Deficiency
Seizure, Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Knee flexi... OMIM:618156
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... OMIM:254800
Lissencephaly 10
Depression, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... OMIM:618873
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Bilateral tonic-cl... OMIM:617113
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Simple febrile seizure, Deja vu aura, Nocturnal seizures, ... ORPHA:98820
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Seizure, Glycosuria, Hyperlipidemia, Irritability,... ORPHA:2089
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... OMIM:617935
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steator... OMIM:266510
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Potocki-Lupski Syndrome
Hypocholesterolemia, Failure to thrive, Small for gestational age, Seizure OMIM:610883
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:36387
Combined Malonic And Methylmalonic Acidemia
Memory impairment, Failure to thrive, Seizure, Hypoglycemia, Dicarboxylic acidemia, Generalized c... ORPHA:289504
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Seizure, Hypocholesterolemia, Lipodystrophy OMIM:608776
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactiv... OMIM:619157
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
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
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Epileptic spasm, Focal he... ORPHA:293181
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Amelogenesis imperfecta, Enamel hypoplasia, Bilateral tonic-clonic se... OMIM:226750
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the ... OMIM:620540
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Seizure, Hypoglycemia, Hyperinsulinemia, Hyperchole... ORPHA:79237
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Benign Familial Neonatal-Infantile Seizures
Mental deterioration, Neonatal seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clon... ORPHA:140927
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Seizure, Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration,... ORPHA:79096
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Depression, Hypocholesterolemia, Abetalipoproteinemia, Elevated circula... ORPHA:96180
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Seizure OMIM:618810
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Seizure, Generalized-onset seizure, Hypocholester... OMIM:212065
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age, Bilateral tonic-clonic sei... OMIM:619278
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Seizure, Recurrent hypoglycemia, Hypocholesterolemia, Hyponat... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Myoclonus, Attention d... OMIM:617600
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Lafora Disease
Mental deterioration, Depression, Generalized myoclonic seizure, Focal impaired awareness seizure... ORPHA:501
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Seizure, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyp... OMIM:614736
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Glucocorticoid Deficiency 2
Myoclonic seizure, Hypoglycemia, Recurrent hypoglycemia, Myoclonus, Decreased circulating cortiso... OMIM:607398
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Dia... OMIM:616026
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Focal sensory seizure with visual features, Generalized non-motor ... OMIM:254780
Chromosome 22Q13 Duplication Syndrome
Short attention span, Emotional lability, Attention deficit hyperactivity disorder, Bilateral ton... OMIM:615538
Dubowitz Syndrome
Hypocholesterolemia, Short attention span, Inguinal hernia OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia, Seizure OMIM:613986
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Seizure, Hypocholesterolemia, Epiphyseal stippling, Elevated ... OMIM:270400
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Sagittal craniosynostosis, Seizure, Febrile seizure (within the age range of 3 ... OMIM:615879
Tatton-Brown-Rahman Syndrome
Obesity, Seizure, Umbilical hernia ORPHA:404443
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation OMIM:618724
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia 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 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Discovery and validation of genes driving drug-intake and related behavioral traits in mice. Genes, brain, and behavior (January 2024) Dnmt3atm1b(KOMP)Wtsi PMC10780947
DNA methyltransferase 3A controls intestinal epithelial barrier function and regeneration in the colon. Nature communications (October 2022) Dnmt3atm1c(KOMP)Wtsi PMC9587301
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 PMC6671969