Not currently registered for phenotyping at IMPC

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

Gene Summary

leucine rich repeat containing 7

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions OMIM:618830
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Chronic Hiccup
Depression, Dehydration, Abnormal eating behavior ORPHA:396
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Manganese Poisoning
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... ORPHA:306682
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Perry Syndrome
Akinesia, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Short stepp... OMIM:168605
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia, Depression ORPHA:178029
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan... ORPHA:240094
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Combined Malonic And Methylmalonic Acidemia
Memory impairment, Dehydration ORPHA:289504
Familial Cold Urticaria
Dysesthesia, Polydipsia, Dehydration ORPHA:47045
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... ORPHA:101039
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Spinocerebellar Ataxia Type 21
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Anorexia, Dehydration ORPHA:79312
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... ORPHA:411602
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Dysphagia, Abnormal social behavior ORPHA:391417
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Ataxia, Narcolepsy, Depression, Dementia, Memory impairment OMIM:604121
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Dementia, Akinesia, Aggressive behavior OMIM:300894
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Ataxia, Dehydration ORPHA:27
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Progressive neurologic deterioration OMIM:214150
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai... ORPHA:240071
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... ORPHA:444002
Corticobasal Syndrome
Memory impairment, Dementia, Gait disturbance, Akinesia ORPHA:454887
Reticular Dysgenesis
Dehydration ORPHA:33355
Carnitine Deficiency, Systemic Primary
Confusion, Dehydration OMIM:212140
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... ORPHA:247234
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Chorea, Progressiv... ORPHA:2131
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia OMIM:606693
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Enteric Anendocrinosis
Dehydration ORPHA:83620
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Lamellar Ichthyosis
Cognitive impairment, Dehydration ORPHA:313
Postencephalitic Parkinsonism
Depression, Abnormal aggressive, impulsive or violent behavior, Akinesia, Dysphagia ORPHA:97349
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Dehydration OMIM:560000
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Edema, Dehydration, Agitation, Oral aversion ORPHA:134
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Isovaleric Acidemia
Dehydration OMIM:243500
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Hypertonic dehydration OMIM:304800
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Polydipsia, Abnormal repetitive mannerisms, Dehydration ORPHA:213
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:609454
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Parkinson Disease 17
Akinesia OMIM:614203
Congenital Tufting Enteropathy
Irritability, Dehydration ORPHA:92050
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration, Progressive neurologic deterioration OMIM:615453
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Propionic Acidemia
Dehydration OMIM:606054
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Akinesia OMIM:616840
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
3-Methylglutaconic Aciduria, Type Viib
Choreoathetosis, Ataxia, Polyhydramnios, Dehydration OMIM:616271
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment ORPHA:314404
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Congenital Myopathy 9A
Akinesia OMIM:618822
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Supranuclear Palsy, Progressive, 1
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:601104
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Secondary Short Bowel Syndrome
Polyphagia, Dehydration ORPHA:95427
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Oligohydramnios OMIM:208085
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hydrops fetalis, Dehydration, Dementia, Mental deterioration, Memory impairment, Delirium ORPHA:79282
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Ataxia, Anorexia, Edema ORPHA:20
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Netherton Syndrome
Dehydration ORPHA:634
Irritability, Dehydration ORPHA:173
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Memory impairment ORPHA:48818
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... ORPHA:309271
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deteriorati... ORPHA:646
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neuroleptic Malignant Syndrome
Chorea, Dehydration, Agitation, Dysphagia, Delirium ORPHA:94093
Pyruvate Carboxylase Deficiency
Ataxia, Anorexia, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand fla... ORPHA:3008
Wolcott-Rallison Syndrome
Ascites, Dehydration ORPHA:1667
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... ORPHA:309263
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Infantile Nephropathic Cystinosis
Cognitive impairment, Polydipsia, Dehydration ORPHA:411629
Familial Renal Glucosuria
Dehydration ORPHA:69076
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Congenital Myopathy 12
Akinesia OMIM:612540
Dend Syndrome
Dehydration ORPHA:79134
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Akinesia, Dysphagia OMIM:608013
Polydipsia, Dehydration ORPHA:2260
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Oculocerebrorenal Syndrome Of Lowe
Dehydration, Depression, Self-injurious behavior, Joint swelling, Compulsive behaviors, Attention... ORPHA:534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Dehydration ORPHA:90038
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Ascites, Dehydration, Psychomotor deterioration ORPHA:275761
Anorexia, Dehydration ORPHA:810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia ORPHA:223
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Anorexia, Dehydration OMIM:557000
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Palpebral edema, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive ce... ORPHA:314647
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Pearson Syndrome
Ataxia, Hydrops fetalis, Dehydration, Corneal stromal edema, Dysphagia ORPHA:699
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Bartter Syndrome Type 4
Emotional lability, Polyhydramnios, Dehydration ORPHA:89938
Cystinosis, Nephropathic
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Dehydration, Dysphagia, Polydipsia OMIM:219800
Colchicine Poisoning
Dehydration ORPHA:31824
Marburg Hemorrhagic Fever
Confusion, Anorexia, Aggressive behavior, Dysesthesia, Dehydration ORPHA:99826
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Anorexia, Dehydration, Depression ORPHA:652
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Dehydration ORPHA:99885
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Distal Renal Tubular Acidosis
Polydipsia, Dehydration ORPHA:18
Ascites, Anorexia, Dehydration ORPHA:97282
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Juvenile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411634
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Paresthesia, Polyhydramnios, Dehydration OMIM:241200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Narcolepsy, Depression, Self-injurious behavior, Compulsive behaviors, Impai... ORPHA:293987
African Trypanosomiasis
Akinesia, Aggressive behavior, Narcolepsy, Choreoathetosis, Irritability, Gait disturbance, Diffi... ORPHA:3385
Anorexia, Dehydration ORPHA:2552
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Bartter Syndrome, Type 1, Antenatal
Paresthesia, Polyhydramnios, Dehydration OMIM:601678
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Narcolepsy 3
Narcolepsy OMIM:609039
Proximal Renal Tubular Acidosis
Polydipsia, Dehydration ORPHA:47159
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dehydration ORPHA:79404
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:93932
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 7
Narcolepsy OMIM:614250
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Cystic Fibrosis
Dehydration OMIM:219700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration ORPHA:90794
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Williams Syndrome
Ataxia, Periorbital edema, Increased nuchal translucency, Dysmetria, Depression, Compulsive behav... ORPHA:904


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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Lrrc71tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)