Gene Summary

Name:
leucine rich repeat and fibronectin type III, extracellular 2
Synonyms:
Lrrc62

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
abnormal kidney morphology Elfn2tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased thigmotaxis Elfn2tm1.1(KOMP)Vlcg HOM Early adult 1.71×10-21
abnormal behavior Elfn2tm1.1(KOMP)Vlcg HOM   Early adult 8.75×10-21
hyperactivity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 3.81×10-15
abnormal vocalization Elfn2tm1.1(KOMP)Vlcg HOM Early adult 2.53×10-10
increased vertical activity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 9.58×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Colon  Section images heterozygote 75% (3 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Eye  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images  Section images heterozygote 100% (4 of 4)
Testis  Section images heterozygote 25% (1 of 4)
Trigeminal V nerve  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 25% (1 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Lateral Orientation

12 Images

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Wholemount

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

12 Images

Human diseases caused by Elfn2 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 Elfn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Bruxism OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Bruxism ORPHA:356996
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Seizure, Self-injurious behavior, Delayed speech and language development, Clonic ... OMIM:619970
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... ORPHA:468726
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Absent speech, Anxiety, Inf... OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure, Absent speech OMIM:607417
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior, Seizure ORPHA:436151
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Aggressive behavior, Echolalia, Attention deficit hyperactivity disorder, Phonic tics, Motor tics... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hartnup Disorder
Hyperactivity, Generalized tonic seizure, Seizure, Delayed speech and language development, Emoti... OMIM:234500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Seizure, Absent speech, Irritability OMIM:616657
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Aggressive behavior, Emotional blunting, Echolalia, Apathy, Abnormal repe... ORPHA:275864
Myoclonus-Dystonia Syndrome
Limb myoclonus, Anxiety, Myoclonus, Spinal myoclonus, Compulsive behaviors, Depression, Panic att... ORPHA:36899
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... ORPHA:100973
Landau-Kleffner Syndrome
Generalized clonic seizure, Focal impaired awareness seizure, Speech articulation difficulties, S... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... OMIM:309548
Obsessive-Compulsive Disorder
Collectionism, Skin-picking, Depression, Anxiety OMIM:164230
Dystonia 11, Myoclonic
Myoclonus, Depression, Anxiety, Agoraphobia, Alcoholism, Panic attack OMIM:159900
Lennox-Gastaut Syndrome
Hyperactivity, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonus, Ge... ORPHA:2382
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 9
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... OMIM:300088
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Suicidal ideation, Pseudobu... ORPHA:208441
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Delayed speech and language development, Bipolar affective disorder, Abse... OMIM:619927
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Absent speech, Bila... OMIM:616056
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Delayed sp... OMIM:301008
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing, Inap... ORPHA:397933
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Status epil... OMIM:239500
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Attention defic... OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Seizure, Myoclonus, Impulsivity, Irritability, Restlessness OMIM:605899
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Seizure, Focal-onset seizure, Delayed speech and language development, Focal... OMIM:619150
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Depression, ... OMIM:619191
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Emotional lability, Impulsiv... ORPHA:66624
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Seizure, Impaired social interactions, Absent speech, Abnormal ... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... OMIM:615516
Foxg1 Syndrome
Paroxysmal bursts of laughter, Impaired social interactions, Focal-onset seizure, Inappropriate c... ORPHA:561854
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... OMIM:271980
Xq25 Microduplication Syndrome
Hyperactivity, Seizure, Anxiety, Speech articulation difficulties ORPHA:521258
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizu... ORPHA:382
Hyperlysinemia, Type I
Delayed speech and language development, Hyperactivity, Seizure OMIM:238700
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Early-Onset Schizophrenia
Restlessness, Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation... ORPHA:96369
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Inappropriate laught... ORPHA:505652
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Seizure, Delayed speech an... OMIM:618718
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Seizure, Shyness, Impaired social interactions, Self-injuriou... ORPHA:449291
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Hyperactivity, Aggressive behavior, Typical absence seizur... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Absent speech OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Hyperactivity, Delayed speech and language development, Myoclonus, Recurrent h... OMIM:617600
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus, Self-injurious behavior, Stereotypical hand w... OMIM:618760
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Delayed speech and language development, Hyperactivity, Aggressive behavior, Seizure OMIM:619470
X-Linked Intellectual Disability, Stocco Dos Santos Type
Delayed speech and language development, Hyperactivity, Seizure, Absent speech ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity, Seizure, Absent speech OMIM:300434
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Delayed speech and langua... OMIM:604317
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Myoclonus, Focal tonic seiz... ORPHA:485350
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Pica, Echolalia, Seizure, Delayed speech and language development, Recurrent ha... OMIM:615032
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Focal hyperkinetic seizure, Abnormal repetitive mannerisms, Bilateral tonic-cl... ORPHA:98784
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Seizure OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Delayed speech and language development, Bilateral tonic-clonic seizure, Hyperactivity OMIM:301076
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Recurrent hand flapping, Absent speech, Dysphagia OMIM:617862
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Seizure, Self-injurious behavior, Stereotypical hand wringing, Myoclonus, Abse... OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, S... OMIM:619827
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, Aggres... OMIM:610042
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Stereotypical hand wringing, Myoclonus, Absent speech, Tonic seizure,... OMIM:618497
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Hyperactivity, Typical absence seizure, Delayed speech and language developmen... OMIM:620145
Phenylketonuria
Hyperactivity, Aggressive behavior, Increased level of hippuric acid in urine, Attention deficit ... OMIM:261600
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... OMIM:618362
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... OMIM:619467
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Stereotyp... OMIM:618917
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Delayed speech and language development, Generalized myoclonic seizure, Absent spe... OMIM:618090
Rasmussen Subacute Encephalitis
Bilateral tonic-clonic seizure with focal onset, Epilepsia partialis continua, Generalized tonic ... ORPHA:1929
Chromosome Xq25 Duplication Syndrome
Delayed speech and language development, Hyperactivity, Seizure, Anxiety OMIM:300979
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Agitation, ... OMIM:300558
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Delayed speech and language development, Recurrent hand flapping, Inappropriate laughter, Seizure OMIM:618859
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language development, A... ORPHA:313892
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Seizure, Self-injurious behavior, Delayed speech an... ORPHA:228402
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic seizure, ... OMIM:618141
Atypical Rett Syndrome
Limb myoclonus, Seizure, Impaired social interactions, Stereotypical hand wringing, Inappropriate... ORPHA:3095
Gand Syndrome
Language impairment, Hyperactivity, Inappropriate laughter, Tics OMIM:615074
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Seizure, Delayed speech and language development, Absent speech, Attention deficit... OMIM:617182
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... ORPHA:3077
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Bilateral tonic... ORPHA:457240
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Paroxysmal bursts of laughter, Aggressive behavior, Echolalia, Delayed speech ... OMIM:619580
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Seizure, Delayed speech and language development, Repetitive compulsive behavior, ... ORPHA:352490
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Echolalia, Recurrent hand flapping, Attention deficit hyperactivity disorder, Seizure OMIM:620021
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Encephalopathy, Progressive, With Or Without Lipodystrophy
Delayed speech and language development, Myoclonus, Seizure, Hyperactivity OMIM:615924
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Echolalia, Seizure, Self-biting, Severe receptive language de... ORPHA:3306
Christianson Syndrome
Generalized-onset seizure, Absent speech, Abnormal repetitive mannerisms, Inappropriate laughter,... ORPHA:85278
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Seizure, Happy demeanor, Absent speech, Inappropriate laughter, Polyphagia ORPHA:411515
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Depression, Progressive cerebellar ataxia, Irritability, Broa... ORPHA:248111
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion/affect behavior, Impaired social interactions, Focal-onset seizur... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Delayed speec... OMIM:617788
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Anxiety, Myoclonic spasms, Emotional lability, Abnormal repetitive mannerisms, Bilateral... ORPHA:79264
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Delayed speech and language development, Myoclonus, Motor tics, Bilateral tonic-clonic seizure, A... OMIM:619725
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Delayed speech and language development, Abnormal repetitive ma... ORPHA:397612
Intellectual Developmental Disorder, Autosomal Recessive 74
Delayed speech and language development, Hyperactivity, Seizure OMIM:617169
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Delayed speech and language development, Recurrent hand flapping, Bruxism OMIM:613192
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Inappropriate crying, Generalized myoclonic seizure, Focal hyperkineti... ORPHA:77299
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Myoclonus, Abnormal repetitive mannerisms, Atonic seizure, Focal impai... ORPHA:411986
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Inappropriate crying, Recurrent hand flapping, Agitation, Absent speech, Bruxism OMIM:617903
Cln5 Disease
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Focal-onset seizure, Anxi... ORPHA:228360
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Impaired social interactions, Delayed speech and language development,... ORPHA:544254
Alazami Syndrome
Seizure, Stereotypical hand wringing, Abnormal repetitive mannerisms, Anxiety, Abnormal eating be... ORPHA:319671
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Echolalia, Seizure, Emotional lability, Agitation, Abnormal repetitive mannerisms, Anxiety ORPHA:927
Ck Syndrome
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Irritability ORPHA:251383
Intellectual Developmental Disorder, Autosomal Dominant 7
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Stereotypi... OMIM:614104
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Aggressive behavior, Seizure, Ste... ORPHA:163681
Ck Syndrome
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Irritability OMIM:300831
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis, ... OMIM:620023
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Hyperactivity, Eyelid myoclonus, Absent speech, Tonic seizure, Bilateral tonic... OMIM:619913
Lamb-Shaffer Syndrome
Hyperactivity, Seizure, Delayed speech and language development, Abnormal social behavior, Abnorm... ORPHA:530983
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Seizure, Absent speech ORPHA:85277
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Seizure, Self-biting OMIM:300624
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal repetitive ... ORPHA:391307
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Aggressive behavior, Ataxia OMIM:612716
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Aggressive behavior, Seizure, Absent speech, Impulsivity, Dysphagia ORPHA:500180
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Seizure, Shyness ORPHA:280763
22Q11.2 Duplication Syndrome
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive beha... ORPHA:1727
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Impaired social interactions, Self-biting, Delayed speech and... OMIM:300912
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Anxiety OMIM:617752
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Seizure, Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Attent... ORPHA:391372
Lopes-Maciel-Rodan Syndrome
Seizure, Agitation, Absent speech, Focal impaired awareness seizure, Dysphagia, Bruxism OMIM:617435
Intellectual Developmental Disorder, Autosomal Recessive 39
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:615541
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Myoclonic spasms, Delayed speech and language development, Abnormal ... ORPHA:447997
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Seizure OMIM:615286
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Seizure ORPHA:457260
5Q14.3 Microdeletion Syndrome
Delayed speech and language development, Seizure, Abnormal repetitive mannerisms ORPHA:228384
Chromosome Xq13 Duplication Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... OMIM:301069
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Seizure, Myoclonus, Recurrent hand flapping, Happy demeanor, Absent speech, Inappr... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hostility, Seizure, Anxiety, Bruxism, Repetitive compulsive behavior, Status epilepticus, Absent ... OMIM:300260
Angelman Syndrome
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Anxiety, Delayed speech and... ORPHA:72
4Q21 Microdeletion Syndrome
Delayed speech and language development, Self-injurious behavior, Seizure, Abnormal repetitive ma... ORPHA:238750
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron... OMIM:620141
48,Xxyy Syndrome
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression, An... ORPHA:10
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Self-injurious behavior, Severe receptive language delay, Generalized myoclonic seizure,... ORPHA:457351
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Seizure, Delayed speech and language development, Tonic seizure, Infantile spasms OMIM:619239
Angelman Syndrome Due To A Point Mutation
Seizure, Recurrent hand flapping, Happy demeanor, Inappropriate laughter, Tongue thrusting, Abnor... ORPHA:411511
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Self-biting, Delayed speech and language development, Impulsivity, Attention... ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 38
Generalized tonic seizure, Hair-pulling, Aggressive behavior, Self-injurious behavior, Absent spe... OMIM:616393
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Myoclonus, ... OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Seizure, Self-injurious behavior, Anxiety, Recurrent hand flapping, Absent s... OMIM:300986
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Transketolase Deficiency
Self-injurious behavior, Delayed speech and language development, Absent speech, Compulsive behav... ORPHA:488618
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Pica, Tics, Happy demeanor, Absent speech, Tongue thrusting, Stereotypical body ro... OMIM:617865
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Urinary bladder sphincter dysfunction, Neurogenic bladder, Ga... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Absent spee... OMIM:616977
Intellectual Developmental Disorder, Autosomal Dominant 52
Pica, Hyperactivity, Seizure, Delayed speech and language development, Absent speech, Anxiety, Ir... OMIM:617796
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:620075
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyphagia, Disinhibition OMIM:607485
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Tics, Inappropriate laughter, Obsessive-compulsive trait, Low frustration toleranc... ORPHA:363686
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Seizure, Delayed speech and language development, Recurrent hand flapping, H... OMIM:619680
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Impaired social interactions, Delayed speech and language development, Moderate receptiv... ORPHA:261197
Progressive Supranuclear Palsy
Delayed speech and language development, Impulsivity, Abnormal synaptic transmission, Depression,... ORPHA:683
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Seizure, Absent speech, Compulsive behaviors, Abnormal repetitive mannerisms... ORPHA:476126
Optic Atrophy-Intellectual Disability Syndrome
Seizure, Repetitive compulsive behavior, Absent speech, Compulsive behaviors, Attention deficit h... ORPHA:401777
Smith-Magenis Syndrome
Seizure, Self-injurious behavior, Delayed speech and language development, Abnormal repetitive ma... ORPHA:819
3P25.3 Microdeletion Syndrome
Delayed speech and language development, Generalized myoclonic seizure, Absent speech, Abnormal r... ORPHA:435638
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure, Tongue thrusting, Dysphagia, Atypical absence seizure, B... ORPHA:98795
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... ORPHA:468678
Rett Syndrome
Seizure, Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Absent speech ORPHA:778
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
X-Linked Creatine Transporter Deficiency
Delayed speech and language development, Hyperactivity, Self-mutilation, Seizure ORPHA:52503
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Seizure, Absent speech ORPHA:500159
Nmda Receptor Encephalitis
Generalized-onset seizure, Seizure, Focal-onset seizure, Hypersexuality, Myoclonus, Status epilep... ORPHA:217253
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Seizure, Anxiety, Delayed speech and language development, Ab... ORPHA:319182
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Seizure, Absent speech, Low frustration tolerance, Self-mutilation OMIM:300486
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Seizure, Delayed speech and language development, Absent speech, Abnormal re... ORPHA:457279
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Seizure, Absent speech ORPHA:261144
Rett Syndrome, Congenital Variant
Seizure, Impaired social interactions, Inappropriate crying, Absent speech, Tongue thrusting, Irr... OMIM:613454
Prader-Willi Syndrome Due To Translocation
Head-banging, Seizure, Impaired social interactions, Delayed speech and language development, Abn... ORPHA:177907
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Seizure OMIM:252920
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Seizure, Impaired social interactions, Focal-onset seizure, Emotional lability, Abnormal repetiti... ORPHA:300570
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia, Emotional lability OMIM:620047
Choreoacanthocytosis
Hyperactivity, Hair-pulling, Aggressive behavior, Seizure, Anxiety, Head-banging, Self-injurious ... ORPHA:2388
Tuberous Sclerosis Complex
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Focal-onset seizure, Repeti... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Seizure, Impaired social interactions, Emotional lability, Lo... OMIM:309520
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Seizure, Delayed speech and language development, Emotional lability, Impulsivity,... OMIM:610217
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Urinary hesitancy OMIM:609727
47,Xyy Syndrome
Hyperactivity, Seizure, Impaired social interactions, Delayed speech and language development, Im... ORPHA:8
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Echolalia, Seizure, Abnormal eating behavior, Irritability, R... ORPHA:247585
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Absent ... ORPHA:496641
7Q11.23 Microduplication Syndrome
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Impaired social interaction... ORPHA:96121
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1001
Intellectual Developmental Disorder, Autosomal Dominant 29
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Hyperac... OMIM:616078
Kleefstra Syndrome
Aggressive behavior, Self-injurious behavior, Seizure, Delayed speech and language development, A... ORPHA:261494
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Seizure, Delayed speech and language development, Simple febrile seizure, Absent speech, Abnormal... ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... ORPHA:353281
Trichotillomania
Hair-pulling OMIM:613229
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Dyrk1A-Related Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Delayed sp... ORPHA:464306
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Repetitive compulsive behavior, Absent speech, Abnormal repetitive mannerisms, Reduc... ORPHA:522077
Argininemia
Hyperactivity, Spastic gait, Oroticaciduria, Diaminoaciduria, Irritability OMIM:207800
Cystinosis
Abnormal repetitive mannerisms, Polydipsia ORPHA:213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Suicidal ideation, Focal-onset seizure, Repetitive compulsive behavior, Clonic seizure, Violent b... OMIM:619475
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:2479
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Seizure, Delayed speech and language development, Bruxism ORPHA:48652
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Delayed speech and langua... ORPHA:513456
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Seizure, Absent speech, Abnormal repetitive mannerisms, No social inte... ORPHA:508533
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Neurodegeneration With Brain Iron Accumulation 1
Palilalia, Hyperactivity, Depression, Dysphagia, Phonic tics, Motor tics, Obsessive-compulsive trait OMIM:234200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... ORPHA:353277
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Seizure ORPHA:66634
Mucopolysaccharidosis Type 2
Hyperactivity, Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Impulsivity ORPHA:580
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Attention... ORPHA:534
1P36 Deletion Syndrome
Seizure, Self-injurious behavior, Delayed speech and language development, Absent speech, Abnorma... ORPHA:1606
Norrie Disease
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Mowat-Wilson Syndrome
Seizure, Anxiety, Impaired social interactions, Focal-onset seizure, Status epilepticus, Happy de... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Seizure, Focal-onset seizure, Happy demeanor, Absent speech, Abnormal repetitive mannerisms, Expr... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Seizure, Focal-onset seizure, Happy demeanor, Absent speech, Abnormal repetitive mannerisms, Expr... ORPHA:261552

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 Elfn2

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 Elfn2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors. Proceedings of the National Academy of Sciences of the United States of America (September 2020) Elfn2tm1(KOMP)Vlcg PMC7519344
ELFN2 is a postsynaptic cell adhesion molecule with essential roles in controlling group III mGluRs in the brain and neuropsychiatric behavior. Molecular psychiatry (September 2019) Elfn2tm1(KOMP)Vleg PMC6874751

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MGI Allele Allele Type Produced
Elfn2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Elfn2tm403059(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elfn2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Elfn2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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