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Gene: Ptchd1 MGI:2685233

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Gene Summary

Name:
patched domain containing 1
Synonyms:
9630036J22Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cued conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 3.33×10-05
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 5.15×10-07
increased vertical activity Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 2.33×10-13
abnormal contextual conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 4.08×10-05
abnormal auditory brainstem response Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 7.59×10-09
abnormal vocalization Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 4.84×10-06
decreased bone mineral density Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 8.13×10-05
increased lean body mass Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.78×10-05
increased aggression Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 3.38×10-06
decreased erythrocyte cell number Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 5.03×10-05
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 1.94×10-12
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 1.61×10-05
increased circulating creatinine level Ptchd1tm1b(KOMP)IcsOrl HOM Early adult 5.02×10-05
abnormal spleen morphology Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 0.00
abnormal locomotor behavior Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.39×10-06
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 2.87×10-12

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

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Human diseases caused by Ptchd1 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.

The table below shows human diseases associated to Ptchd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Generalized hypotonia, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:300830

The table below shows human diseases predicted to be associated to Ptchd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Generalized hypotonia, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Familial Alzheimer-Like Prion Disease
Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D... ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Hypotonia OMIM:620038
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Lowe... OMIM:619639
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Generalized hypotonia, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 43
Generalized hypotonia, Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, A... OMIM:617113
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Inability to walk, Hypotonia, Irritability, Hyperactivity, Spastic tetraplegia OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hypotonia, Hyperactivity DECIPHER:20
Spinocerebellar Ataxia 14
Mental deterioration, Memory impairment, Depression, Gait ataxia, Dysmetria, Attention deficit hy... OMIM:605361
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Memory impairment, EEG with generalized epileptiform discharges, C... ORPHA:98818
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity ORPHA:356996
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp... OMIM:234500
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, E... ORPHA:2382
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ... OMIM:619191
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Memory impairment, Inappropriate behavior, Rigidity, Cognitive impairment, Ataxia, Dy... ORPHA:401901
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Schizophrenia 15
Hyperactivity OMIM:613950
Juvenile Huntington Disease
Broad-based gait, Depression, Oral motor hypotonia, Gait ataxia, Irritability, Rigidity, Hyperact... ORPHA:248111
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Hypotonia, Hypsarrhythmia, H... ORPHA:599373
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Hyperprolinemia, Type I
Generalized hypotonia, Hypotonia, Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Mo... OMIM:239500
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weight, Ataxia ORPHA:99852
Intellectual Developmental Disorder, Autosomal Recessive 38
Neonatal hypotonia, Generalized hypotonia, Recurrent hand flapping, Self-mutilation, Diminished a... OMIM:615516
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Short attention span, Cystinuria, Hyperlysinemia, Hyperactivity... OMIM:238700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, EEG abnormali... ORPHA:411515
Smith-Magenis syndrome
Hypotonia, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Hyperactivity, Ataxia, Dystonia OMIM:615924
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness,... OMIM:605899
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Thrombocytopenia, Decreased serum ... ORPHA:54057
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Rasmussen Subacute Encephalitis
Hemidystonia, Memory impairment, Continuous spike and waves during slow sleep, EEG with focal sha... ORPHA:1929
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Mental deterioration, Spasticity, Inability to walk, Abnormal amplitude of flash visual e... ORPHA:168491
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Focal EEG discharges with secon... ORPHA:3077
Microcephaly, Seizures, And Developmental Delay
Hypotonia, Hyperactivity, Ataxia OMIM:613402
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform dischar... ORPHA:163681
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Spasticity, Depression, Memory impairment, Narcolepsy, Ataxia, Dementia OMIM:604121
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Phenylketonuria
Depression, Elevated urinary gamma-glutamylphenylalanine level, Self-mutilation, Irritability, Ag... OMIM:261600
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Obesity, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors,... OMIM:301107
Infantile Neuroaxonal Dystrophy
Mental deterioration, Spasticity, Spastic tetraparesis, Short attention span, Abnormality of peri... ORPHA:35069
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Mental deterioration,... ORPHA:52368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Pitt-Hopkins-Like Syndrome 1
Spasticity, Generalized hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder,... OMIM:610042
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hypotonia, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor ster... OMIM:619470
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Gait disturbance, Hyperactivity OMIM:618090
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... OMIM:619827
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity,... OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Inability to walk, Gait ataxia, Aggressive behavior, Limb hypertonia, EEG abnormality... ORPHA:500180
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Confusion, Reti... OMIM:274150
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hypotonia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Failure to thrive, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hype... OMIM:609425
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Abnormal emotion, Hypotonia, EEG... ORPHA:1942
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia OMIM:617056
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Irr... OMIM:616881
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, EE... OMIM:271980
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hypotonia, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Joint hypermobility, Irritability, Aggressive b... OMIM:300831
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Depression, Aggressive behavior, Lower li... ORPHA:485350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Hypotonia, Short attention span, Aggressive behavior, Attention deficit hyperactivity... OMIM:620242
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia OMIM:619468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Hypotonia, Gait ataxia, Hyperactivity, Axial hypotonia OMIM:620145
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Ataxia, Broad-based gait, Inappropriate laughter, Abnormal ... ORPHA:98794
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Spasticity, Memory impairment, Depression, Narcolepsy, Ataxia ORPHA:314404
Intellectual Developmental Disorder, X-Linked 30
Hypotonia, Short attention span, Aggressive behavior, Hyperactivity, Restlessness, Agitation OMIM:300558
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Spasticity, Depression, Hypotonia, Aggressive behavior, Hyperactivity, C... OMIM:619467
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hypotonia, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Paroxysmal bursts ... OMIM:620445
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Spasticity, Short attention span, Emotional lability, Dysmetria, Gait ataxi... OMIM:610217
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Disinhibition, Aggressive behavior, Attention deficit hyperactiv... ORPHA:43
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Memory impairment, Depression, Elevated circulating creatinine concentration, ... ORPHA:247691
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hearing impairment, Joint stiffness, Splenomegaly, Aggressi... OMIM:252920
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... ORPHA:247585
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Hypotonia, Short attention span, R... ORPHA:449291
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Ataxia, Depression, Generalized hypotonia, Hypotonia, Cognitive impairme... OMIM:601853
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hearing impairment, Joint hypermobility, Aggressive behavior, Hyperactivity ORPHA:457260
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:301013
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Cognitive impairment, Ataxia, Optic disc pallor, Optic neuropat... ORPHA:909
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Restless legs, ... ORPHA:101085
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Narcolepsy, Hypotonia, Li... ORPHA:646
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Progressive psychomotor deterioration, Limb dystonia, Gait ataxia, Hyperactivity, Cog... ORPHA:363400
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor st... OMIM:620292
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Large for gestational age,... OMIM:600501
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Abnormal pinna... OMIM:614104
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Rigidity, Aggressive behavior, Hyperactivity, Hyperto... OMIM:620023
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Sensorineural hearing impairment, Decreased body weight, Hypera... OMIM:608747
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Chromosome Xq13 Duplication Syndrome
Hypotonia, Emotional lability, Diminished ability to concentrate, Attention deficit hyperactivity... OMIM:301069
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Developmental And Epileptic Encephalopathy 103
Continuous spike and waves during slow sleep, EEG with burst suppression, Hypotonia, EEG with pol... OMIM:619913
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Delayed somatosensory central conduction time, Decreased motor nerve conducti... OMIM:610532
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Hypotonia, Unsteady gait, Tongue thrusting, Hyperac... OMIM:617865
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Mental deterioration, ... ORPHA:206436
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Motor stereotypy, Macrotia ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 45
Hypotonia, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Moto... OMIM:617600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing ... ORPHA:73272
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Joint stiffness, Splenomegaly, Hyperactivity, Motor deterioration, Hepatomega... OMIM:252930
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration, Polydipsia OMIM:266900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia OMIM:619260
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Spasticity, Depression, Blepharospasm, Akinesia, Obsessive-com... OMIM:234200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Adenylosuccinase Deficiency
Spasticity, Generalized hypotonia, Inability to walk, Inappropriate laughter, Hypotonia, Gait ata... OMIM:103050
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hypocalcemia, Elevated... ORPHA:36234
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Joint stiffness, Splenomegaly, Hyperactivity, Hepatomegaly, Dense calvaria OMIM:252900
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Congenital-Onset Steinert Myotonic Dystrophy
Neonatal hypotonia, Short attention span, Hyperactivity, Facial hypotonia, Dysphagia, Bradyphrenia ORPHA:589821
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Failure to thrive OMIM:619239
X-Linked Creatine Transporter Deficiency
Self-mutilation, Joint hypermobility, Aganglionic megacolon, Cachexia, Hyperactivity, Ataxia, Ath... ORPHA:52503
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Failure to thrive, Hearing impairment, Difficulty walking,... ORPHA:90321
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Diaminoaciduria, Reduced... OMIM:207800
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Emotional lability, Splenomegaly, Irritability, Polyphagia, Jaundi... ORPHA:525731
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Failure to thri... OMIM:216400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero... OMIM:618885
Angelman Syndrome
Broad-based gait, Generalized hypotonia, Hypotonia, Progressive gait ataxia, EEG abnormality, Hyp... OMIM:105830
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology... ORPHA:760
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Failure to thri... OMIM:133540
Hyperlysinemia
Tip-toe gait, EEG with spike-wave complexes, Short attention span, Dysmetria, Neck hypertonia, Op... ORPHA:2203
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Osteomyelitis, Emotional lability, Self-mutil... OMIM:256800
Choreoacanthocytosis
Mental deterioration, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Lingua... ORPHA:2388
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Confusion, Leukocytosis, Thromb... ORPHA:340
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Depression, Oculogyric crisis, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, ... OMIM:612716
Mucopolysaccharidosis Type 2
Mental deterioration, Limitation of joint mobility, Sensorineural hearing impairment, Cognitive i... ORPHA:580
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, ... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Polydipsia, Elevated circulating creatinine concentration, Hypocalce... ORPHA:411634
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529799
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Cardiogenic Shock
Confusion, Elevated circulating creatinine concentration ORPHA:97292
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Legius Syndrome
Hypotonia, Short attention span, Attention deficit hyperactivity disorder, Cognitive impairment, ... ORPHA:137605
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Multiple joint contractures, Hair-pulling, Protruding ear, Irritability, Hypsarrhyt... ORPHA:447997
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Aggressive behavior, Hypera... ORPHA:401973
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Narcolepsy 3
Narcolepsy OMIM:609039
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Generalized hypotonia, Narcolepsy, Emotional lab... ORPHA:293987
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 7
Narcolepsy OMIM:614250
African Trypanosomiasis
Narcolepsy, Difficulty walking, Akinesia, Irritability, Aggressive behavior, Gait disturbance, De... ORPHA:3385
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Painless fractures due to injury, Difficulty walking, Osteomyelitis, Abnormal e... ORPHA:642
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Elevated circulating creatinine concentration, Reduced hematocr... ORPHA:91500
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... ORPHA:99829
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534

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 Ptchd1

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 Ptchd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2017) Ptchd1tm1a(KOMP)IcsOrl Ptchd1tm1d(KOMP)IcsOrl 29118110

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptchd1tm1a(KOMP)IcsOrl KO first allele (reporter-tagged insertion with conditional potential) Mice
Ptchd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptchd1tm94175(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptchd1tm1b(KOMP)IcsOrl Reporter-tagged deletion allele (with selection cassette) Mice
Ptchd1tm94175(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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