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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
hyperactivity Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.67×10-05
abnormal behavior Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.84×10-06
abnormal spinal cord morphology Elfn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased thigmotaxis Elfn1tm1.1(KOMP)Vlcg HOM Early adult 1.83×10-06

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.

Adult LacZ

LacZ Images Section

39 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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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
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
Microcephaly 25, Primary, Autosomal Recessive
Tethered cord, Attention deficit hyperactivity disorder OMIM:618351
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 2
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional labi... OMIM:234500
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Self... ORPHA:382
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Irritability, Seizure OMIM:616657
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ... OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysmetria, Gait ataxia, Generalized... OMIM:618090
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Depression, Gait ataxia, Seizure, Irritability, Progressive cerebe... ORPHA:248111
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure OMIM:612716
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hyperactivity, Ataxia, Myoclonus OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Seizure, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... ORPHA:228360
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Compulsive behaviors, Atte... OMIM:261600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... OMIM:617600
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Bruxism, Abn... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Bruxism OMIM:300434
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ataxia, Se... ORPHA:500180
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Seizure, Hyperactivity OMIM:617169
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Seizure, Inappropriate laughter, Polyph... ORPHA:411515
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Seizure OMIM:274270
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Seizure, Self-injurious behavior, Compulsive beha... OMIM:619467
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Tethered cord, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... OMIM:300558
Intellectual Developmental Disorder, X-Linked 107
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Seizure, Chorea, Inappropriate behavior ORPHA:309246
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure OMIM:619239
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within the age range of ... OMIM:614104
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 13
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Spinal arachnoid cyst, Hyperactivity, Aggressive behavior ORPHA:85327
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attention deficit hyperactivi... OMIM:620242
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Self-mutilation ORPHA:52503
Fragile X Syndrome
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Seizure, S... OMIM:617302
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Seizure, Gait disturbance, Choking episodes, E... ORPHA:35069
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Self-injurious behavior, A... ORPHA:449291
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Aggressiv... OMIM:300912
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... ORPHA:72
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagi... OMIM:610217
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Gait ataxia, Seizure, Myoclonus, Inappropriate laughter, Self... OMIM:103050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Abnormal spinal cord morphology ORPHA:99947
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Ataxia, Emotional lability OMIM:620047
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, EEG ... ORPHA:1934
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Argininemia
Hyperactivity, Anorexia, Seizure, Irritability, Spastic gait OMIM:207800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
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
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Hyperactivity, Abnormal spinal cord morphology, Dysphagia ORPHA:139396
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Self-... ORPHA:2388
Acute Disseminated Encephalomyelitis
Irritability, Abnormal spinal cord morphology, Myelitis, Aggressive behavior ORPHA:83597
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... OMIM:234200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353281
Amoebiasis Due To Free-Living Amoebae
Irritability, Abnormal spinal cord morphology, Restlessness ORPHA:68
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... ORPHA:353277
Tetrasomy 9P
Abnormal spinal cord morphology, Hyperactivity, Inappropriate behavior ORPHA:3310
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Depression ORPHA:289390
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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