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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
decreased exploration in new environment Ehmt2tm1.1(KOMP)Mbp HET Early adult 5.64×10-05
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
hyperactivity Ehmt2tm1.1(KOMP)Mbp HET Early adult 7.09×10-06
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 Forepaw

9 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Sleep Wake

Wake state (bmp file)

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Gross Morphology Embryo E9.5

Images

2 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, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... OMIM:619191
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Placental Insufficiency
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... ORPHA:439167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Schisis Association
Encephalocele, Anencephaly, Premature birth, Spina bifida ORPHA:63862
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Shor... OMIM:256520
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... ORPHA:43
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Skin... ORPHA:163681
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Wildervanck Syndrome
Meningocele ORPHA:3456
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation ORPHA:254528
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Humero-Radial Synostosis
Meningocele ORPHA:3265
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Trichohepatoenteric Syndrome 1
Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios, Intrauterine growth ... OMIM:222470
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation ORPHA:1708
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Hydrocephalus, Breech presentation, Anencephaly, Single ... OMIM:249000
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Polyhydramnios, Decreased fetal movement, Spina bifida OMIM:616038
Amish Lethal Microcephaly
Decreased fetal movement, Spina bifida ORPHA:99742
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Histidinemia
Hyperactivity ORPHA:2157
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Amniotic constriction ... ORPHA:2369
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Premature birth, Polyhydramnios, Large placenta, Spinal dysraphism, Intrauterine growth retardation ORPHA:96334
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Single umbilical artery, Intrau... ORPHA:3412
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Single umbilical artery, Intrauterine growth retar... ORPHA:99776
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, Spina bifida, Hydrocephalus, Umbilical hernia, Oligohydramnios OMIM:613776
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia ORPHA:116
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Trisomy 18
Spina bifida, Anencephaly, Holoprosencephaly, Intrauterine growth retardation, Oligohydramnios ORPHA:3380
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele OMIM:616546
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Decreased fetal movement, Spina bifida ORPHA:2671
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Digital constriction ring ORPHA:1010
Nail-Patella Syndrome
Spina bifida OMIM:161200
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Hydrops fetalis ORPHA:2879
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Fibular Hemimelia
Spina bifida ORPHA:93323
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
22Q11.2 Deletion Syndrome
Spina bifida, Polyhydramnios, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical h... ORPHA:567
Jacobsen Syndrome
Intrauterine growth retardation, Premature birth, Spina bifida ORPHA:2308
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Fanconi Anemia
Spina bifida, Hydrocephalus, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios ORPHA:84
Campomelic Dysplasia
Hydrocephalus, Polyhydramnios, Spina bifida, Spinal dysraphism OMIM:114290
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Fetal pyelectasis, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Fetal pyelectasis, Spina bifida ORPHA:363958
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Single umbilical artery, Patent urachus, Intrauterine grow... OMIM:192350
Aicardi Syndrome
Spina bifida OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Spina bifida occulta, Spina bifida OMIM:180849
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Marfan Syndrome
Meningocele ORPHA:558
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida 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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