Gene Summary

Name:
DLG associated protein 4
Synonyms:
WBP16,  PSD-95/SAP90 binding protein 4,  Sapap4,  SAP90/PSD-95-associated protein 4,  DAP4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number Dlgap4tm1b(KOMP)Wtsi HET Early adult 3.21×10-05
increased blood urea nitrogen level Dlgap4tm1b(KOMP)Wtsi HET   Early adult 7.34×10-05
increased circulating creatinine level Dlgap4tm1b(KOMP)Wtsi HET Early adult 9.94×10-08
increased lean body mass Dlgap4tm1b(KOMP)Wtsi HET Early adult 7.71×10-06
decreased total body fat amount Dlgap4tm1b(KOMP)Wtsi HET Early adult 1.92×10-05
decreased fasting circulating glucose level Dlgap4tm1b(KOMP)Wtsi HET Early adult 2.85×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Dlgap4 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 Dlgap4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Mental deterioration, Abnormal non... ORPHA:268947
Azotemia, Familial
Azotemia OMIM:109160
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Poor eye contact, Tip-toe gait, Gait ataxia, Aggressive behavio... ORPHA:468620
Huntington Disease-Like 1
EEG abnormality, Dysmetria, Cognitive impairment, Depression, Chorea, Memory impairment, Gait dis... ORPHA:157941
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Motor deterioration, Shuffling... ORPHA:412066
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability, Hypsarrhythmia OMIM:615006
Autism
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300496
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608636
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300425
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Small ... ORPHA:275555
Dystonia 31
Depression, Difficulty walking, Abnormal posturing OMIM:619565
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Alg13-Cdg
Poor eye contact, Hypsarrhythmia, Cognitive impairment ORPHA:324422
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Depression, Anxiety, Panic attack, Fati... ORPHA:255
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Cognitive impairment, Gait disturbance, Attention deficit hypera... ORPHA:216866
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior, Semantic dementia, Memory impairment, Disinhibition, Dementia ORPHA:1020
Mohr-Tranebjaerg Syndrome
Mental deterioration, Abnormal posturing OMIM:304700
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... ORPHA:66624
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior ORPHA:101039
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior, ... OMIM:610042
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Poor eye contact, Athetosis, Gait disturbance, Hypsarrhythmia OMIM:618141
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioratio... ORPHA:163681
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age OMIM:616733
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria OMIM:615605
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased serum creatinine, Hypocystinemia OMIM:617744
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300495
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Obesity, Abnormal dental... ORPHA:251004
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,... OMIM:608104
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal social behav... ORPHA:309271
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... ORPHA:64280
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal social behav... ORPHA:309263
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Impulsivity, Cognitive impairment, Depression, Anxiety, Panic attack, Fro... ORPHA:2828
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Cognitive impairment, Athetosis, EEG with abnormally slow frequencies, Titubation, Diffic... ORPHA:280219
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Depression, Anxiety, Chorea, Aggressive behavior, Impaired social interactions OMIM:619738
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... ORPHA:447
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Poor eye contact, Hyperactivity, Depression, Anxiety, Attention deficit ... ORPHA:449291
Sporadic Infantile Bilateral Striatal Necrosis
Inappropriate crying, Chorea, Gait disturbance, Titubation, Gait ataxia, Abnormal posturing ORPHA:225147
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Enamel hypoplasia, Foot joint contracture, Scar... ORPHA:90321
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... ORPHA:309256
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Anxiety, Shyness, Aggressive behavior OMIM:300978
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Normocytic ... ORPHA:49041
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Difficulty walking, Shyness ORPHA:280763
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior, Multifocal epilept... ORPHA:369891
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608049
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Memory impairment,... ORPHA:314647
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki... ORPHA:36234
Dystonia 1, Torsion, Autosomal Dominant
Depression, Inability to walk, Abnormal posturing OMIM:128100
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Anemia, Hepatosplenomegaly, Decreased HDL ... ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de... OMIM:618885
Niemann-Pick Disease Type C
Apathy, Ataxia, Cognitive impairment, Mental deterioration, Abnormal social behavior, Depression,... ORPHA:646
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hyperactivity, Self-mutilation, Anxiety, Diffi... OMIM:123450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,... ORPHA:96263
Multiple Myeloma
Splenomegaly, Anemia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalce... ORPHA:29073
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Glycosuria, Hypoca... ORPHA:411634
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Shyness OMIM:300801
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Normocytic anemia, Normochromic anemia ORPHA:247691
Choreoacanthocytosis
Bradyphrenia, Apathy, Head-banging, Self-injurious behavior, Irritability, Loss of ambulation, Im... ORPHA:2388
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Maturity-onset diabetes of the young, Glycosuria, Impaired glucose tolerance... OMIM:137920
Oligomeganephronia
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Small for gestati... ORPHA:2260
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance OMIM:619293
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Luscan-Lumish Syndrome
Shyness, Anxiety, Aggressive behavior OMIM:616831
Dihydropyrimidine Dehydrogenase Deficiency
EEG abnormality, Inability to walk, Abnormal social behavior, Multifocal epileptiform discharges,... ORPHA:1675
49,Xxxxy Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Shyness, Irritability, Low frustratio... ORPHA:96264
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphat... ORPHA:340
White-Sutton Syndrome
Overfriendliness, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Waddling ... OMIM:616364
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Impaired pain sensation, Gait ataxia OMIM:616579
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention deficit hyperactivity ... ORPHA:177907
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Abnormal nonverbal communicative behavior, Decreased nerve conduction velocity, ... ORPHA:485421
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Abnormal social behavior ORPHA:401973
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Fg Syndrome Type 1
Broad-based gait, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Tuberous Sclerosis Complex
Self-injurious behavior, Impulsivity, Hyperactivity, Abnormal social behavior, Depression, Anxiet... ORPHA:805
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Goodpasture Syndrome
Anemia, Weight loss, Increased blood urea nitrogen OMIM:233450
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Vici Syndrome
Abnormal posturing OMIM:242840
1P21.3 Microdeletion Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:293948
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Choriore... ORPHA:91500
Yellow Fever
Neutrophilia, Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentratio... ORPHA:99829
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Irritability, Hair-pulling, Hypsarrhythmia ORPHA:447997
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Eosinophilia, Decreased retinol-binding pr... ORPHA:449395
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... ORPHA:363958
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Trichotillomania
Hair-pulling OMIM:613229
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Abnormal posturing ORPHA:268943
Van Esch-O'Driscoll Syndrome
Impulsivity, Poor eye contact, Shyness, Attention deficit hyperactivity disorder OMIM:301030
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Inguinal her... OMIM:619534
Trichothiodystrophy
Impaired social reciprocity, Gait ataxia ORPHA:33364
Monosomy 22Q13.3
Impaired pain sensation, Hyperactivity, Hair-pulling ORPHA:48652
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Depression, Anxiet... ORPHA:904
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Shyness, Anxiety, Aggressive behavior, Ataxia ORPHA:466791
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development, Atten... ORPHA:99413
Turner Syndrome
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development, Atten... ORPHA:881
Mosaic Monosomy X
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development, Atten... ORPHA:99228
Monosomy X
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development, Atten... ORPHA:99226

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 Dlgap4

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 Dlgap4.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development. Nature communications (May 2022) Dlgap4tm1a(KOMP)Wtsi Dlgap4tm1b(KOMP)Wtsi PMC9117333
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dlgap4tm1b(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dlgap4tm1b(KOMP)Wtsi Dlgap4tm1b(KOMP)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Dlgap4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dlgap4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dlgap4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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