Gene Summary

Name:
clarin 2
Synonyms:
EG624224,  mpc169H

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 prepulse inhibition Clrn2em1(IMPC)J HOM Early adult 5.14×10-07
abnormal auditory brainstem response Clrn2em1(IMPC)J HOM   Early adult 5.73×10-12
increased total body fat amount Clrn2em1(IMPC)J HOM Early adult 1.47×10-11
decreased startle reflex Clrn2em1(IMPC)J HOM Early adult 2.99×10-07
decreased lean body mass Clrn2em1(IMPC)J HOM Early adult 5.63×10-12
decreased bone mineral content Clrn2em1(IMPC)J HOM Early adult 2.09×10-09
increased vertical activity Clrn2em1(IMPC)J HOM   Early adult 9.56×10-05
abnormal startle reflex Clrn2em1(IMPC)J HOM Early adult 7.14×10-08
decreased bone mineral density Clrn2em1(IMPC)J HOM Early adult 7.57×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Clrn2 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 Clrn2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174

The table below shows human diseases predicted to be associated to Clrn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration OMIM:601369
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Anorexia ORPHA:99852
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,... 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
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Failure to thr... OMIM:616881
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Difficulty w... ORPHA:206443
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Exaggerated startle response, Optic disc pallor, Flexion contra... OMIM:609541
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Multiple joint contractures, Exaggerated startle response, Opt... ORPHA:320406
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Ataxia, Abnormal auditory evoked potentials, Dysdiadochokinesis, Abno... ORPHA:99027
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Re... ORPHA:101085
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, EEG with generalized slow activity, Inability to walk, Joint contracture, Exag... OMIM:617864
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Elbow flexion contracture, Hip contracture, Joint hypermobility, Dys... OMIM:617301
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Hearing impairment, Exaggerated startle response OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Failure to thrive, Difficulty walking,... ORPHA:90321
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:133540
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... OMIM:608643
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:216400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... ORPHA:206448
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Contractures of the large joints, Failure to thrive, Low-set, posteriorly rotated ... ORPHA:521426
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... ORPHA:206436
Tay-Sachs Disease
Optic atrophy, Hearing impairment, Laryngeal dystonia, Inability to walk, Limited elbow extension... ORPHA:845
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, EEG abnormality, Exaggerated startle response, Macrotia OMIM:617281
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... OMIM:609136
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Impulsivity, Hypsarrhythmia, Hyperactivity, Exaggerated startle respo... OMIM:620423
Apert Syndrome
Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineural hearing impa... ORPHA:87
Deafness, Unilateral
Unilateral deafness OMIM:125000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Contractures of the large joints, Failure to thrive, Dysphagia, Exag... OMIM:617527
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response OMIM:620451
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Asparagine Synthetase Deficiency
Failure to thrive, EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated st... OMIM:615574
Sandhoff Disease
Ataxia, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Low-set ears, Hearing impairment, Exaggerated startle respon... ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Flexion contracture, Exaggerated startle response OMIM:253800
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Aggressive behavior, Hypera... ORPHA:401973
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Sensorineural... ORPHA:1435
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Inability to walk, Uterine prolapse, Joint hypermobility, Stereotyp... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Low-set, posteriorly rotated ears, Overfo... ORPHA:138
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Joint hypermobility, Motor stereotypy, Attention deficit hyperactivity disorder, Dy... OMIM:619522
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Sensorineural hearing impairment, Mi... OMIM:214800
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Abnormality... ORPHA:798
Norrie Disease
Abnormal helix morphology, Sensorineural hearing impairment, Protruding ear, Macrotia, Abnormal c... ORPHA:649

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 Clrn2

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 Clrn2.

No publications found that use IMPC mice or data for Clrn2.

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
Clrn2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clrn2em1(IMPC)J Inter-exon deletion Mice

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