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Gene: Clptm1l MGI:2442892

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Gene Summary

Name:
CLPTM1-like
Synonyms:
C130052I12Rik

Order Alleles

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
hyperactivity Clptm1lem1(IMPC)J HOM Late adult 9.06×10-09
decreased grip strength Clptm1lem1(IMPC)J HOM Early adult 9.71×10-05
decreased circulating alkaline phosphatase level Clptm1lem1(IMPC)J HOM Early adult 3.47×10-16
cataract Clptm1lem1(IMPC)J HOM   Early adult 2.46×10-06
decreased bone mineral content Clptm1lem1(IMPC)J HOM Early adult 3.28×10-05
hyperactivity Clptm1lem1(IMPC)J HOM Early adult 2.99×10-10
decreased exploration in new environment Clptm1lem1(IMPC)J HOM Late adult 4.44×10-06
decreased locomotor activity Clptm1lem1(IMPC)J HOM Late adult 2.54×10-05
increased vertical activity Clptm1lem1(IMPC)J HOM Early adult 3.89×10-06
increased prepulse inhibition Clptm1lem1(IMPC)J HOM Early adult 6.33×10-05
abnormal auditory brainstem response Clptm1lem1(IMPC)J HOM   Early adult 0.00108
decreased exploration in new environment Clptm1lem1(IMPC)J HOM Early adult 1.04×10-07

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Forepaw

5 Images

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X-ray

XRay Images Skull Lateral Orientation

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

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X-ray

XRay Images Forepaw

10 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

6 Images

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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, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... OMIM:619191
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Attention deficit hyperactivity disorder OMIM:618878
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Landau-Kleffner Syndrome
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... ORPHA:98818
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... OMIM:239500
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Hyperphenylalaninem... OMIM:261600
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Depression, Dementia, Adult onset sensorineural hearing impairme... ORPHA:329314
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Anorexia ORPHA:99852
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Ment... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Unsteady gait, Optic atrophy, Cataract OMIM:620312
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep... ORPHA:599373
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Ataxia, Osteoporosis, Dementia, Increased bone density ... OMIM:136300
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... ORPHA:52368
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate lau... ORPHA:411515
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Cataract, Posteriorly rotated ears, Reduced bone mineral density, Delayed ossifica... OMIM:618392
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Usher Syndrome Type 3
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Asti... ORPHA:231183
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Cln5 Disease
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... ORPHA:228360
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, EEG with focal epile... ORPHA:1929
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Pellagra-Like Syndrome
Cataract, Ataxia, Confusion OMIM:260650
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism... OMIM:618718
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Classic Phenylketonuria
Cataract, Depression, Self-injurious behavior, Attention deficit hyperactivity disorder, Hyperphe... ORPHA:79254
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated ci... OMIM:271980
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Usher Syndrome Type 1
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Iris... ORPHA:231169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Inability to walk, Sensorin... OMIM:615350
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Sensorineural hearing impairment, Optic disc drusen, Eye poking, Hyperthre... OMIM:204000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Mental deterioration... ORPHA:163681
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration ORPHA:3233
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Muscle-Eye-Brain Disease
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormality, Gai... ORPHA:588
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG abnormality,... ORPHA:500180
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... OMIM:619260
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, ... OMIM:310600
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, A... OMIM:256800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... ORPHA:98794
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... ORPHA:529799
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Unsteady ga... ORPHA:1942
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Short attention span, Ataxia, Abnormal auditory evoked potentials,... ORPHA:909
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... OMIM:612674
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadoc... OMIM:610217
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Hyperactivity, Sensorineural hearing impairment OMIM:608747
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia, Irritability OMIM:616881
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... ORPHA:206448
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural h... ORPHA:73272
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Osteoporosis, Pseudobulbar paralysis, Abnormal circulating c... OMIM:213700
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Dense calvaria, Hearing... OMIM:252920
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Mixed hearing impairment, Cataract, Ataxia, Corneal opacity, Confu... ORPHA:309288
Autoimmune Hypoparathyroidism
Increased bone mineral density, Cataract, Confusion, Depression, Irritability, Hyperphosphatemia,... ORPHA:36913
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Transketolase Deficiency
Cataract, Hearing impairment, Self-injurious behavior, Conjunctivitis, Attention deficit hyperact... ORPHA:488618
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... OMIM:612469
Hypoparathyroidism, Familial Isolated, 1
Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Osteopetrosis, Absent brainst... ORPHA:3240
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Depression, Mental deterior... ORPHA:79095
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Ataxia, Optic atrophy, Conjunctivitis, Gait distur... ORPHA:90321
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... ORPHA:139396
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Mend Syndrome
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-deh... ORPHA:401973
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivi... OMIM:278730
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Dementia... OMIM:234200
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Cockayne Syndrome A
Cataract, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Cataract, Sensorineural hearing impairment, Optic atrophy, Rickets, Bilateral ... OMIM:268315
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec... ORPHA:2388
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Histidinemia
Hyperactivity ORPHA:2157
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900

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.

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

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