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
decreased circulating alkaline phosphatase level Clptm1lem1(IMPC)J HOM Early adult 3.47×10-16
increased prepulse inhibition Clptm1lem1(IMPC)J HOM Early adult 4.00×10-05
decreased exploration in new environment Clptm1lem1(IMPC)J HOM Early adult 1.04×10-07
abnormal auditory brainstem response Clptm1lem1(IMPC)J HOM   Early adult 0.000965
hyperactivity Clptm1lem1(IMPC)J HOM Early adult 2.99×10-10
increased vertical activity Clptm1lem1(IMPC)J HOM Early adult 3.89×10-06
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
decreased bone mineral content Clptm1lem1(IMPC)J HOM Early adult 3.28×10-05
cataract Clptm1lem1(IMPC)J HOM Early adult 3.61×10-05
hyperactivity Clptm1lem1(IMPC)J HOM Late adult 9.06×10-09
decreased grip strength Clptm1lem1(IMPC)J HOM   Early adult 4.03×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Skull Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Forepaw

5 Images

Auditory Brain Stem Response

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

6 Images

Electrocardiogram (ECG)

Waveform Image

16 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, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity 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
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ... OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Emotional lability, Episodic ataxia OMIM:234500
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
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Bradykinesia OMIM:618878
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Memory impairment, Depression, EEG with generalized epileptiform d... ORPHA:98818
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Optic atrophy, Cataract, Depression, Cognitive impairment, Adult onset sensorineural hear... ORPHA:329314
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Phenylketonuria
Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper... OMIM:261600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Bradyki... ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, E... ORPHA:2382
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait, Memory impairment, Cataract OMIM:620312
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Inability to walk, Hypsarrhythmia, Hyperactivity, Ataxia, M... ORPHA:599373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Shuffling gait,... ORPHA:52368
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract, Sensorineural hearing impairment OMIM:613076
Flynn-Aird Syndrome
Cataract, Progressive sensorineural hearing impairment, Increased bone density with cystic change... OMIM:136300
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
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
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Hearing impairment, Tortuosity of conjunctival vessels OMIM:248510
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia... ORPHA:411515
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Macrotia, Posteriorly rotated ears, Reduced bone mineral density, Delayed ossification ... OMIM:618392
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism, Sensorineural hearing impairment, Ataxi... ORPHA:231183
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Mental deterioration, Inability to walk, Abnormal amplitude of flash visual evoked potent... ORPHA:168491
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Hyperlysinemia, Type I
Hypoornithinemia, Ectopia lentis, Short attention span, Hyperlysinemia, Cognitive impairment, Hyp... OMIM:238700
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Rasmussen Subacute Encephalitis
Memory impairment, Continuous spike and waves during slow sleep, EEG with focal sharp slow waves,... ORPHA:1929
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Classic Phenylketonuria
Self-injurious behavior, Mental deterioration, Cataract, Memory impairment, Depression, Attention... ORPHA:79254
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Inability to walk, Bruxism, Motor stereotypy, Hyperactivit... OMIM:618718
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Depression, Sensorineural hearing impairment, Ataxia, Abnormal c... ORPHA:231169
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Mental deterioration, Abnormal temper tantrums, EEG with generalized epileptiform dischar... ORPHA:163681
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Muscle-Eye-Brain Disease
Optic atrophy, Cataract, Elevated circulating creatine kinase concentration, Gait disturbance, EE... ORPHA:588
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... OMIM:617523
Infantile Neuroaxonal Dystrophy
Mental deterioration, Optic atrophy, Short attention span, Emotional lability, Abnormality of per... ORPHA:35069
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, EEG abnormality, Hyperactivity, Dysphagia, I... ORPHA:500180
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked... ORPHA:909
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic di... OMIM:619260
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur... OMIM:310600
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Restless legs, Gait ataxia, ... ORPHA:101085
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Emotional labili... OMIM:256800
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polys... ORPHA:1942
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Senso... OMIM:109120
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529799
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Iris hypopigmentation, Broad-based gait, Inappropriate laug... ORPHA:98794
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Decreased nerve conduction velocity, Dysmetria, Subcapsular cataract, Se... OMIM:612674
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Abnormal auditory evoked potentials, Spastic gait, Abnormality of somatosensory evoked po... ORPHA:99027
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Abnormal ... ORPHA:247585
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:43
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Irritability OMIM:616881
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Emotional lability, Dysmetria, Gait ataxia, Hyperacti... OMIM:610217
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short attention span, Hyperactivity, Sensorineural hearing impairment OMIM:608747
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre... OMIM:300539
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Short atte... ORPHA:449291
Cerebrotendinous Xanthomatosis
Ataxia, Cataract, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Difficu... OMIM:213700
Alpha-Mannosidosis, Adult Form
Ataxia, Cataract, Osteopenia, Depression, Confusion, Corneal opacity, Mixed hearing impairment, O... ORPHA:309288
Autoimmune Hypoparathyroidism
Cataract, Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritabili... ORPHA:36913
Wagro Syndrome
Low-set ears, Cataract, Aniridia, Emotional lability, Low frustration tolerance, Polyphagia, Aggr... OMIM:612469
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Aggressive behavior, Hyperactivity, Progressive neurologic deterioration, Den... OMIM:252920
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Transketolase Deficiency
Self-injurious behavior, Cataract, Elevated circulating ribitol concentration, Hearing impairment... ORPHA:488618
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures OMIM:146200
Cockayne Syndrome Type 1
Optic atrophy, Cataract, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve ... ORPHA:90321
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Cataract, Memory impairment, Depression, Elevated circulating creatine kina... ORPHA:79095
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Hearing impairment, Difficulty walking, Confusion, Inabi... ORPHA:139396
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Mend Syndrome
Low-set ears, Cataract, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Aggressiv... ORPHA:401973
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Primary Unilateral Adrenal Hyperplasia
Tinnitus, Hypokalemia, Polydipsia, Decreased circulating renin level ORPHA:231580
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Ivory ep... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Cataract, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of... OMIM:216400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Cataract, Keratitis, Corneal neovascularization, Sensorineural hearing impa... OMIM:278730
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Gait disturb... OMIM:234200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... OMIM:609136
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Legius Syndrome
Cataract, Hearing impairment, Short attention span, Vestibular schwannoma, Attention deficit hype... ORPHA:137605
Apparent Mineralocorticoid Excess
Hypokalemia, Polydipsia, Decreased circulating renin level ORPHA:320
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Dysphagia, Low vol... ORPHA:171929
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Schwannomatosis, Vestibular
Ataxia, Cataract, Posterior subcapsular cataract, Hearing impairment, Bilateral vestibular schwan... OMIM:101000
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Dysphagia, Socially i... ORPHA:2388
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Ectopic Aldosterone-Producing Tumor
Tinnitus, Hypokalemia, Decreased circulating renin level ORPHA:231632
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Aniridia 1
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Aniridia, Corneal neovascular... OMIM:106210
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Histidinemia
Hyperactivity ORPHA:2157
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Tinnitus, Hypokalemia, Decreased circulating renin level ORPHA:231625
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Decreased circulating renin level OMIM:615474
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Norrie Disease
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Cataract, Ectopia lentis, Hypo... ORPHA:649
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Conductive hearing impairment, Decreased circulating renin level, Simple ear, Hypon... OMIM:201750

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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