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Gene: Elfn1 MGI:2442479

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Gene Summary

Name:
leucine rich repeat and fibronectin type III, extracellular 1
Synonyms:
A930017N06Rik

Order Alleles

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
abnormal spinal cord morphology Elfn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased thigmotaxis Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.86×10-06
hyperactivity Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.80×10-05
abnormal behavior Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.87×10-06

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  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
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 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 Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
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 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Tongue 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)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

View images
Adult LacZ

LacZ Images Section

39 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Human diseases caused by Elfn1 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 Elfn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Filum terminale lipoma, Tethered cord OMIM:618351
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
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619970
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Impulsivity, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:617113
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dysphagia, Status epilepticus OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:617787
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior, Seizure OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Hartnup Disorder
Hyperactivity, Emotional lability, Seizure, Episodic ataxia, Attention deficit hyperactivity diso... OMIM:234500
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hyperactivity, Hypsarrhythmia,... ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Chorea, Seizure, Athetosis, Bilateral tonic-clonic ... ORPHA:382
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Fall... ORPHA:2382
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity, Seizure, Generalized-onset seizure OMIM:616657
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Hyperprolinemia, Type I
Hyperactivity, Seizure, Ataxia, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:239500
Epilepsy, Progressive Myoclonic, 12
Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperactivity di... OMIM:619191
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Foc... ORPHA:208441
Glycine Encephalopathy 1
Irritability, Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Lethargy, Aggressive ... OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Irritabili... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizur... OMIM:620145
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Hyperactivity, Chorea, Depression, Seizure, Gait ata... ORPHA:248111
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic ... OMIM:618090
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Aggressive behavior OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Seizure, Generalized-onset seiz... OMIM:619827
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Ataxia, Myoclonus OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Seizure, Ataxia, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder OMIM:619927
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Hyperactivity, EEG with f... ORPHA:485350
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure, Aggressive behavior OMIM:248510
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Seizure, Motor stereotypy, Aggressive behavior OMIM:619470
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, E... OMIM:604317
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Aggressive behavior, Interictal epileptiform activ... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Bilatera... OMIM:617600
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Seizure, Motor stereotypy, Self-injurious behavior, EEG abnorma... OMIM:618718
Phenylketonuria
Irritability, Hyperactivity, Depression, Seizure, Compulsive behaviors, Attention deficit hyperac... OMIM:261600
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:617182
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure, Bruxism OMIM:300434
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Chorea, Impaired pain sensation, Seizure, Impulsivity, Gait ataxia, Dysphagia, Agg... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure, EEG with polyspike wave complexes OMIM:617169
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Seizure, Polyphagia, Inappropriate laughter, Ataxia, EEG abnorma... ORPHA:411515
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Seizure, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal bursts of l... OMIM:620445
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Seizure, Compulsive behaviors, Self-injurious behavior, Aggressive beh... OMIM:619467
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Tethered cord, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention ... OMIM:620141
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Bilateral tonic-clonic seizure OMIM:609924
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Seizure, Aggressive behavior OMIM:301013
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Seizure, Abnormal fear-induced behavior ORPHA:309246
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, Hyperactivity, Seizure, Infantile spasms, Tonic seizure, EEG with burst suppression OMIM:619239
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Spinal arachnoid cyst, Aggressive behavior ORPHA:85327
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Seizure, Stereotypical hand wringing, Febrile seizure (within the age range of 3 m... OMIM:614104
2Q23.1 Microdeletion Syndrome
Hyperactivity, Seizure, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal... ORPHA:228402
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Seizure, Broad-based gait, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Seizure, Impulsivity OMIM:300143
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Bruxism, Recurrent hand flapping OMIM:613192
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:238700
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Seizure, Impulsivity, Gait disturbance, Choking episodes, Abno... ORPHA:35069
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Seizure, Recurrent hand flappi... ORPHA:98794
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Seizure, Dysphoria, Motor stereotypy, Attention deficit hyperactivity ... OMIM:620242
X-Linked Creatine Transporter Deficiency
Hyperactivity, Chorea, Seizure, Athetosis, Ataxia, Self-mutilation ORPHA:52503
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Fragile X Syndrome
Hyperactivity, Seizure, Recurrent hand flapping, Self-biting OMIM:300624
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, EEG with focal sharp waves, Seizure, ... OMIM:617302
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Seizure, Ataxia, Motor stereotypy ORPHA:530983
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Seizure, Recurrent hand flappi... ORPHA:449291
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Infantile ... OMIM:300912
Angelman Syndrome
Generalized myoclonic seizure, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivi... ORPHA:72
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Chorea, Dysdiadochokinesis, Emotional lability, Seizure, Impulsivity, Gait ataxia,... OMIM:610217
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Focal-onset seizure, Hypsarrhythmia, Hyperactivity, Multifocal seizures,... OMIM:620423
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Abnormal spinal cord morphology ORPHA:99947
Adenylosuccinase Deficiency
Hyperactivity, Seizure, Gait ataxia, Inappropriate laughter, Myoclonus, Self-mutilation, Aggressi... OMIM:103050
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia, Seizure OMIM:620047
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Depression, Seizure, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hypsarrhythmia, Hyperactivity, Infantile spasms, Bilateral tonic-clon... ORPHA:447997
Argininemia
Spastic gait, Irritability, Anorexia, Hyperactivity, Seizure OMIM:207800
Histidinemia
Hyperactivity ORPHA:2157
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Dysphagia, Motor tics... ORPHA:2388
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Abnormal spinal cord morphology, Myelopathy, Dysphagia ORPHA:139396
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Irritability, Myelitis, Aggressive behavior ORPHA:83597
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Akinesia, Hyperactivity, Depression, Gait disturbance, ... OMIM:234200
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Adrenomyeloneuropathy
Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:139399
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... ORPHA:353281
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Irritability, Restlessness ORPHA:68
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... ORPHA:353277
Tetrasomy 9P
Hyperactivity, Abnormal spinal cord morphology, Inappropriate behavior ORPHA:3310
Primary Sjögren Syndrome
Depression, Abnormal spinal cord morphology ORPHA:289390
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369

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 Elfn1

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 Elfn1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Presynaptic Kainate Receptors onto Somatostatin Interneurons Are Recruited by Activity throughout Development and Contribute to Cortical Sensory Adaptation. The Journal of neuroscience : the official journal of the Society for Neuroscience (September 2023) Elfn1tm1(KOMP)Vlcg PMC10601374
Post-developmental plasticity of the primary rod pathway allows restoration of visually guided behaviors. Current biology : CB (September 2022) Elfn1tm1(KOMP)Vlcg 36179691
Divergent outer retinal circuits drive image and non-image visual behaviors. Cell reports (June 2022) Elfn1tm1(KOMP)Vlcg PMC9400924
Postmitotic Prox1 Expression Controls the Final Specification of Cortical VIP Interneuron Subtypes. The Journal of neuroscience : the official journal of the Society for Neuroscience (August 2021) Elfn1tm1(KOMP)Vlcg PMC8482865
Selective Enrichment of Munc13-2 in Presynaptic Active Zones of Hippocampal Pyramidal Cells That Innervate mGluR1α Expressing Interneurons. Frontiers in synaptic neuroscience (January 2021) Elfn1tm1.1(KOMP)Vlcg PMC8866005
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) Elfn1tm1(KOMP)Vlcg PMC7519344
Elfn1-Induced Constitutive Activation of mGluR7 Determines Frequency-Dependent Recruitment of Somatostatin Interneurons. The Journal of neuroscience : the official journal of the Society for Neuroscience (April 2019) Elfn1tm1(KOMP)Vlcg PMC6554623
The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors. Neuron (March 2017) Elfn1tm1(KOMP)Vlcg PMC5364038
Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision. Neuron (September 2015) Elfn1tm1(KOMP)Vlcg PMC4583715
Mutation of Elfn1 in mice causes seizures and hyperactivity. PloS one (November 2013) Elfn1tm1(KOMP)Vlcg PMC3842350

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MGI Allele Allele Type Produced
Elfn1tm406503(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elfn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Elfn1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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