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Gene: Ehmt2 MGI:2148922

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Gene Summary

Name:
euchromatic histone lysine N-methyltransferase 2
Synonyms:
Bat8,  KMT1C,  G9a,  D17Ertd710e,  NG36

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ehmt2tm1.1(KOMP)Mbp HOM   Early adult 0.00
hyperactivity Ehmt2tm1.1(KOMP)Mbp HET Early adult 5.27×10-06
embryonic lethality prior to tooth bud stage Ehmt2tm1.1(KOMP)Mbp HOM   E12.5 0.00
abnormal locomotor behavior Ehmt2tm1.1(KOMP)Mbp HET Early adult 6.99×10-06
decreased exploration in new environment Ehmt2tm1.1(KOMP)Mbp HET Early adult 5.64×10-05
embryonic growth retardation Ehmt2tm1.1(KOMP)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Sleep Wake

Wake state (bmp file)

8 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

1 Images

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Human diseases caused by Ehmt2 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 Ehmt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... ORPHA:439167
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Anxiety, Mental ... OMIM:619191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Mental deterioration ORPHA:2382
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis ORPHA:382
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Dementia, Ataxia, Progressive cerebellar ataxia, Irritability, Broad-... ORPHA:248111
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Aggressive behavior, Ataxia OMIM:612716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Shuffling gait, Abnor... ORPHA:3077
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria OMIM:618090
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety OMIM:271980
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis OMIM:620023
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Impulsivity, Dysphagia ORPHA:500180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Cln5 Disease
Hyperactivity, Aggressive behavior, Inability to walk, Anxiety, Truncal ataxia, Dysdiadochokinesi... ORPHA:228360
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Fetal Akinesia Deformation Sequence 1
Premature birth, Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Hydrocephalus, De... OMIM:208150
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Premature birth ORPHA:63862
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Neu-Laxova Syndrome 1
Polyhydramnios, Fetal akinesia sequence, Spina bifida, Short umbilical cord, Decreased fetal move... OMIM:256520
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Gait disturbance, Dementia, Attention d... ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... OMIM:610042
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Infantile Neuroaxonal Dystrophy
Hyperactivity, Choking episodes, Gait disturbance, Psychomotor deterioration, Emotional lability,... ORPHA:35069
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Developmental Delay, Language Impairment, And Ocular Abnormalities
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:620141
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Restrictive Dermopathy
Premature birth, Polyhydramnios, Short umbilical cord, Decreased fetal movement, Large placenta, ... ORPHA:1662
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation OMIM:603194
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Anxiety, Inability to walk, Motor deterioration, Gait disturb... ORPHA:168491
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly, Int... ORPHA:1908
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Intrauterine growth retardation OMIM:611134
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Intrauterine growth retardation, Umbilical hernia, Large placenta ORPHA:254528
Humero-Radial Synostosis
Meningocele ORPHA:3265
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysmetria, Menta... OMIM:610217
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Ataxia, Skin-picking, Mental deterioration, Low frustration t... ORPHA:163681
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Mosaic Trisomy 16
Maternal diabetes, Large placenta, Preeclampsia, Intrauterine growth retardation, Single umbilica... ORPHA:1708
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Dysmetria, Difficulty walking, Mental... ORPHA:139396
Greenberg Dysplasia
Polyhydramnios, Hydrops fetalis, Neonatal death, Nonimmune hydrops fetalis, Echogenic fetal bowel... OMIM:215140
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Self-mutilation, Ataxia ORPHA:52503
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Kagami-Ogata Syndrome
Polyhydramnios, Premature birth, Large placenta ORPHA:254519
Triploidy
Meningocele, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Trichohepatoenteric Syndrome 1
Polyhydramnios, Abnormalities of placenta or umbilical cord, Intrauterine growth retardation, Lar... OMIM:222470
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Thickened nuchal skin fold ORPHA:2437
Meckel Syndrome, Type 1
Anencephaly, Hydrocephalus, Oligohydramnios, Breech presentation, Large placenta, Occipital encep... OMIM:249000
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Intrauterine growth retardation, Umbilical hernia ORPHA:2311
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Restrictive Dermopathy 1
Premature birth, Polyhydramnios, Short umbilical cord, Hydropic placenta, Decreased fetal movemen... OMIM:275210
Iniencephaly
Polyhydramnios, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hy... ORPHA:63259
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Joubert Syndrome 14
Meningocele, Hydrocephalus, Encephalocele OMIM:614424
Amish Lethal Microcephaly
Spina bifida, Decreased fetal movement ORPHA:99742
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Spina bifida, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Histidinemia
Hyperactivity ORPHA:2157
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Vacterl With Hydrocephalus
Polyhydramnios, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Single umbilic... ORPHA:3412
Neu-Laxova Syndrome 2
Spina bifida, Polyhydramnios, Decreased fetal movement, Intrauterine growth retardation OMIM:616038
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Large placenta, Intrauterine growth retardation, Premature birth ORPHA:96334
Arnold-Chiari Malformation Type Ii
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Argininemia
Hyperactivity, Irritability, Spastic gait OMIM:207800
Mosaic Trisomy 9
Polyhydramnios, Hydrops fetalis, Spina bifida, Oligohydramnios, Single umbilical artery, Intraute... ORPHA:99776
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Beckwith-Wiedemann Syndrome
Polyhydramnios, Large placenta, Subchorionic septal cyst, Premature birth, Umbilical hernia ORPHA:116
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Akinesia, Choreoathetosis, Gait disturbance, Dementia, Ataxia, Mental deterioratio... OMIM:234200
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Trisomy 18
Spina bifida, Anencephaly, Oligohydramnios, Holoprosencephaly, Intrauterine growth retardation ORPHA:3380
Neu-Laxova Syndrome
Spina bifida, Polyhydramnios, Decreased fetal movement, Intrauterine growth retardation ORPHA:2671
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Nail-Patella Syndrome
Spina bifida OMIM:161200
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis, Intrauterine growth retardation ORPHA:2879
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Digital constriction ring ORPHA:1010
Fibular Hemimelia
Spina bifida ORPHA:93323
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningo... ORPHA:567
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus OMIM:109400
Orofaciodigital Syndrome Vi
Arrhinencephaly, Occipital meningocele OMIM:277170
Jacobsen Syndrome
Spina bifida, Premature birth, Intrauterine growth retardation ORPHA:2308
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:610828
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278
Fanconi Anemia
Spina bifida, Hydrocephalus, Oligohydramnios, Intrauterine growth retardation, Umbilical hernia ORPHA:84
Campomelic Dysplasia
Spina bifida, Polyhydramnios, Spinal dysraphism, Hydrocephalus OMIM:114290
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Fetal pyelectasis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Fetal pyelectasis ORPHA:363958
Aicardi Syndrome
Spina bifida OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Vater/Vacterl Association
Spina bifida, Patent urachus, Occipital encephalocele, Single umbilical artery, Intrauterine grow... OMIM:192350
Rubinstein-Taybi Syndrome 1
Spina bifida, Spina bifida occulta, Polyhydramnios OMIM:180849
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Marfan Syndrome
Meningocele ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia OMIM:304120
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Ehmt2

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 Ehmt2.

No publications found that use IMPC mice or data for Ehmt2.

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MGI Allele Allele Type Produced
Ehmt2tm448485(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ehmt2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ehmt2tm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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