Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
leucine rich repeat containing 7
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrrc7 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 Lrrc7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Chronic Hiccup
Dehydration, Depression ORPHA:396
Immunodeficiency 8
Hyperactivity OMIM:615401
Geniospasm 1
Anxiety OMIM:190100
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Gilbert Syndrome
Dehydration OMIM:143500
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Central Diabetes Insipidus
Dehydration, Anxiety, Depression ORPHA:178029
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Steppage gait, Emotional lability, Social and occup... ORPHA:98818
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Dementia, Depression, Ataxia, Memory impairment OMIM:604121
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema OMIM:616069
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Combined Malonic And Methylmalonic Acidemia
Memory impairment, Dehydration ORPHA:289504
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Impaired social interactions, Aggressive behavior, Ataxia, Hy... OMIM:610042
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Familial Cold Urticaria
Dehydration, Dysesthesia ORPHA:47045
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Choreoathetosis, Ataxia ORPHA:27
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Choreoathetosis ORPHA:79312
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Harlequin Ichthyosis
Dehydration, Self-injurious behavior ORPHA:457
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bipolar affective disorder, Dystonia, Disinhibition, Aggres... ORPHA:646
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Reticular Dysgenesis
Dehydration ORPHA:33355
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Lamellar Ichthyosis
Cognitive impairment, Dehydration ORPHA:313
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Lack of pe... ORPHA:1942
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Enteric Anendocrinosis
Dehydration ORPHA:83620
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Isovaleric Acidemia
Dehydration OMIM:243500
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Aggressive behavior, Chorea, Ataxia, Emotional lability, De... ORPHA:2131
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Poo... OMIM:103050
Beta-Ketothiolase Deficiency
Apathy, Dehydration, Edema, Ataxia ORPHA:134
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Motor deterioration, ... ORPHA:168491
Hsd10 Disease
Abnormal social behavior, Choreoathetosis, Ataxia ORPHA:391417
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Depression, Ataxia, Memory impairment, Mental deterioration ORPHA:314404
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration, Irritability OMIM:304800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
3-Hydroxy-3-Methylglutaric Aciduria
Apathy, Dehydration, Edema, Ataxia ORPHA:20
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Propionic Acidemia
Dehydration OMIM:606054
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration OMIM:208085
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Pyruvate Carboxylase Deficiency
Apathy, Dehydration, Ataxia, Poor eye contact ORPHA:3008
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity OMIM:616809
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity, Cogniti... ORPHA:363400
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Abnormal social behavior ORPHA:444002
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Ataxia, Hyperactivity OMIM:300912
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dementia, Ataxia, Dehydration, Memory impairment, Mental deterioration ORPHA:79282
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivit... OMIM:123450
Cystinosis
Dehydration ORPHA:213
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
Netherton Syndrome
Dehydration ORPHA:634
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Congenital Tufting Enteropathy
Dehydration, Irritability ORPHA:92050
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Cholera
Dehydration, Irritability ORPHA:173
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Depression, Progressive gait ataxia, Abnormal social behavior, Difficulty wal... ORPHA:309271
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Wolcott-Rallison Syndrome
Dehydration, Ascites ORPHA:1667
Neuroleptic Malignant Syndrome
Chorea, Dehydration, Anxiety ORPHA:94093
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
47,Xyy Syndrome
Impaired social interactions, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hyperactivity OMIM:182290
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Yellow Fever
Dehydration ORPHA:99829
Cryptosporidiosis
Dehydration ORPHA:1549
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Poor eye contact, Self-injurious ... ORPHA:72
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Aggressive behavior, Ataxia, Hyperactivity ORPHA:369891
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Renal Hypoplasia
Dehydration ORPHA:93101
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Narcolepsy 7
Narcolepsy OMIM:614250
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration, Irritability ORPHA:90038
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor deterioration, Emotion... ORPHA:309263
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Dehydration, Psychomotor deterioration, Ascites ORPHA:275761
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Infantile Nephropathic Cystinosis
Cognitive impairment, Dehydration ORPHA:411629
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired social interactions, Narcolepsy, Aggressive behavior, Depression, Self-injurious behavio... ORPHA:293987
Potocki-Lupski Syndrome
Poor eye contact, Hyperactivity OMIM:610883
Dend Syndrome
Dehydration ORPHA:79134
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Depression, Self-injurious behavior, Dehydration, Anxiety ORPHA:534
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Palpebral edema, Abnormal social behavior, Ataxia, Dysmetria, Memory impairm... ORPHA:314647
Shigellosis
Dehydration ORPHA:810
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Colchicine Poisoning
Dehydration ORPHA:31824
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Ataxia ORPHA:99885
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Pearson Syndrome
Corneal stromal edema, Dehydration, Hydrops fetalis, Ataxia ORPHA:699
Oligomeganephronia
Dehydration ORPHA:2260
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Abnormal social behavior, Gait ataxia, Emotional lability ORPHA:309256
Infantile Bartter Syndrome With Sensorineural Deafness
Polyhydramnios, Dehydration, Emotional lability ORPHA:89938
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Mood swings ORPHA:525731
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Dementia, Depression, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, ... OMIM:234200
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
African Trypanosomiasis
Narcolepsy, Aggressive behavior, Akinesia, Difficulty walking, Apathy, Gait disturbance, Irritabi... ORPHA:3385
Vipoma
Dehydration, Ascites ORPHA:97282
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Abnormal aggressive, impulsive or violent behavior ORPHA:96263
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Cystinosis, Nephropathic
Progressive neurologic deterioration, Dehydration OMIM:219800
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Hyperactivity OMIM:252930
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity ORPHA:254346
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration, Paresthesia OMIM:601678
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Microsporidiosis
Dehydration ORPHA:2552
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:363528
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Hyperactivity ORPHA:319182
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Dehydration, Paresthesia OMIM:241200
Multiple Endocrine Neoplasia Type 1
Dehydration, Depression ORPHA:652
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hypernatremic dehydration ORPHA:223
Juvenile Nephropathic Cystinosis
Dehydration ORPHA:411634
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Unsteady gait, Anxiet... ORPHA:96121
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Fatigable weakness of swallowing muscles, Disinhibition, Ag... ORPHA:581
Severe Generalized Junctional Epidermolysis Bullosa
Dehydration, Edema ORPHA:79404
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Inappropriate crying, Hyperactivity ORPHA:261323
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Oligohydramnios, Abnormal social behavior, Head-bangi... ORPHA:177907
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Koolen-De Vries Syndrome
Conspicuously happy disposition, Impulsivity, Anxiety, Hyperactivity OMIM:610443
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:401973
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353281
Cystic Fibrosis
Dehydration OMIM:219700
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration ORPHA:90794
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Impulsivity, Hyperactivity, Cognitive ... ORPHA:580
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Histidinemia
Hyperactivity ORPHA:2157
Early Infantile Epileptic Encephalopathy
Hyperactivity, Self-injurious behavior, Episodic ataxia, Dystonia ORPHA:1934
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353284
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Anxiety, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Anxiety, Overfriendliness ORPHA:363958
Monosomy 22Q13.3
Hair-pulling, Hyperactivity ORPHA:48652
Williams Syndrome
Overfriendliness, Depression, Abnormal social behavior, Ataxia, Increased nuchal translucency, An... ORPHA:904

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 Lrrc7

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 Lrrc7.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Lrrc71tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Lrrc71tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lrrc71tm1a(KOMP)Wtsi