Gene Summary

Name:
CLPTM1-like
Synonyms:
C130052I12Rik

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
hyperactivity Clptm1lem1(IMPC)J HOM Late adult 9.06×10-09
decreased grip strength Clptm1lem1(IMPC)J HOM   Early adult 4.26×10-05
cataract Clptm1lem1(IMPC)J HOM   Early adult 2.52×10-06
decreased bone mineral content Clptm1lem1(IMPC)J HOM Early adult 3.29×10-05
decreased exploration in new environment Clptm1lem1(IMPC)J HOM Late adult 3.88×10-06
decreased locomotor activity Clptm1lem1(IMPC)J HOM Late adult 2.54×10-05
increased vertical activity Clptm1lem1(IMPC)J HOM Early adult 4.96×10-06
increased prepulse inhibition Clptm1lem1(IMPC)J HOM Early adult 6.42×10-05
abnormal auditory brainstem response Clptm1lem1(IMPC)J HOM   Early adult 0.000624
decreased exploration in new environment Clptm1lem1(IMPC)J HOM Early adult 1.04×10-07
decreased circulating alkaline phosphatase level Clptm1lem1(IMPC)J HOM Early adult 3.47×10-16
hyperactivity Clptm1lem1(IMPC)J HOM Early adult 3.19×10-10

Download data as:  TSV  XLS

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

X-ray

XRay Images Forepaw

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Skull Lateral Orientation

5 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Clptm1l 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 Clptm1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Ectopia lentis, Cognitive impairment OMIM:238700
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619639
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Anxiety, Bradykinesia OMIM:618878
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Osteopenia, Hyperactivity OMIM:608747
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Cataract, Gait disturbance ORPHA:2815
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia, Aggressive behavior OMIM:239500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Glycine Encephalopathy
Irritability, Hyperactivity, Aggressive behavior, Lethargy OMIM:605899
Phenylketonuria
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Attention d... OMIM:261600
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... ORPHA:2382
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Gait ataxia... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Flynn-Aird Syndrome
Ataxia, Increased bone mineral density, Osteoporosis, Cataract, Increased bone density with cysti... OMIM:136300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Self-injurious behavior, Bradykinesia, Memory impairment, Self-biting, Nail-biting... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Cognitive impairment, Optic atrophy, Cataract, Adult onset sensorineural hearing impairme... ORPHA:329314
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... OMIM:609425
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Elevated circulating ga... OMIM:271980
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... ORPHA:1929
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Iris hypopigmentation ORPHA:411515
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Anxiety, Astigmatism, Iris hypopigmentation, Cataract, ... ORPHA:231183
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... ORPHA:168491
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Classic Phenylketonuria
Self-injurious behavior, Mental deterioration, Memory impairment, Motor deterioration, Attention ... ORPHA:79254
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Hearing impairment, Developmental cataract, Cataract, Decreased circulating ceruloplasmin concent... OMIM:614482
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Self-injurious behavior, Hyperactivity, Low-set ears OMIM:618718
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Muscle-Eye-Brain Disease
EEG abnormality, Cognitive impairment, Elevated circulating creatine kinase concentration, Optic ... ORPHA:588
Ck Syndrome
Hyperactivity, Aggressive behavior, Abnormal cortical bone morphology, Posteriorly rotated ears, ... OMIM:300831
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Ataxia, Elevated levels of phytanic acid, Cataract OMIM:614879
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, S... ORPHA:163681
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Abnormal autonomic nervous system... OMIM:256800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529799
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Optic disc pallor, Cataract, Abnormal auditory evoked p... OMIM:619260
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619467
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Subcapsular cataract, Ataxia, Decreased nerve conduction veloci... OMIM:612674
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Inability to walk, Gait ataxia, Aggressive behavior ORPHA:500180
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... ORPHA:99027
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... ORPHA:909
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior OMIM:610042
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Dense calvaria, Progressive neurologic deterioration, Aggressive behavior, Hearing... OMIM:252920
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... ORPHA:35069
Gomez-Lopez-Hernandez Syndrome
Ataxia, Hyperactivity, Self-injurious behavior, Craniosynostosis, Cognitive impairment, Opacifica... OMIM:601853
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Cataract OMIM:615184
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior OMIM:300958
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacifi... OMIM:310600
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Ost... ORPHA:73272
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Mend Syndrome
Hyperactivity, Elevated 8(9)-cholestenol, Cataract, Aggressive behavior, Abnormal auditory evoked... ORPHA:401973
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures, Irritability OMIM:146200
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Gait disturbance, Attention deficit hyperactivity disorder, ... ORPHA:43
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Increased blood urea nitrogen, Optic atrophy, Gait d... ORPHA:90321
Cerebrotendinous Xanthomatosis
Ataxia, Abnormality of central somatosensory evoked potentials, Osteoporosis, Optic disc pallor, ... OMIM:213700
Mend Syndrome
Low-set ears, Hyperactivity, Cataract OMIM:300960
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... OMIM:619913
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Mental deterioration, Progressive neurologic d... ORPHA:206436
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Athetosis, Abnormal circulating creatine concentration, A... ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Hyperactivity, Happy demeanor, EEG wit... ORPHA:98794
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Transketolase Deficiency
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Elevated circulating... ORPHA:488618
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment ORPHA:1885
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Gait ataxia, Em... OMIM:610217
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavior OMIM:103050
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Xeroderma Pigmentosum, Complementation Group D
Sensorineural hearing impairment, Keratitis, Ataxia, Corneal neovascularization, Mental deteriora... OMIM:278730
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Ivory epiphyses of the phala... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Ivory epiphyses of the phala... OMIM:133540
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Inability to walk, Hyperactivity, Self... ORPHA:72
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity, Dense calvaria, Motor deterioration OMIM:252930
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Osteopenia, Optic atrophy, Cataract, Calcinosis OMIM:617913
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Rickets, Optic atrophy, Optic disc pallor, Cataract, Hearing im... OMIM:268315
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:449291
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Mucopolysaccharidosis Type 3
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa... ORPHA:581
Legius Syndrome
Hyperactivity, Cognitive impairment, Vestibular schwannoma, Attention deficit hyperactivity disor... ORPHA:137605
Histidinemia
Hyperactivity ORPHA:2157
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity, Hypouricemia ORPHA:760
Argininemia
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait, Irritability OMIM:207800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... ORPHA:649
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Bradykinesia, Hyperactivity, Mental deterioration, Gait disturbance, Choreoathe... OMIM:234200
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Choreoacanthocytosis
Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Abnormal autono... ORPHA:2388
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Astigmatism, Gait ataxia, Sho... OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Corneal ulceration, Hyperactivity, Self-mutilation, Orthostatic hypotension due... ORPHA:642

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 Clptm1l

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 Clptm1l.

No publications found that use IMPC mice or data for Clptm1l.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Clptm1ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clptm1lem1(IMPC)J Exon Deletion Mice
Clptm1ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter