Gene Summary

Name:
chloride channel, voltage-sensitive 6
Synonyms:
N/A

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
microphthalmia Clcn6em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Clcn6em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Clcn6em1(IMPC)Mbp HOM Early adult 1.10×10-10

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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.

Phenotype associated images not available

Human diseases caused by Clcn6 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 Clcn6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
OMIM:619173

The table below shows human diseases predicted to be associated to Clcn6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Ataxia OMIM:278780
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Lethargy OMIM:274270
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Ataxia, Dysmetria ORPHA:48431
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Microphthalmia OMIM:613155
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cofs Syndrome
Microphthalmia ORPHA:1466
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior ORPHA:309246
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Broad-based gait OMIM:618805
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia OMIM:308350
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Microphthalmia, Waddling gait ORPHA:2788
Pierpont Syndrome
Microphthalmia ORPHA:487825
Pierpont Syndrome
Microphthalmia OMIM:602342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Lissencephaly 8
Microphthalmia OMIM:617255
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Myoclonic-Astatic Epilepsy
Microphthalmia, Unsteady gait, Ataxia ORPHA:1942
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Moebius Syndrome
Microphthalmia, Dysdiadochokinesis, Gait disturbance OMIM:157900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Fanconi Anemia, Complementation Group S
Microphthalmia, Ataxia OMIM:617883
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Seckel Syndrome 2
Microphthalmia OMIM:606744
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Inability to walk, Microphthalmia OMIM:618494
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inability to walk, Microphthalmia, Gait disturbance, Difficulty walking OMIM:618571
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Warburg Micro Syndrome 4
Inability to walk, Microphthalmia OMIM:615663
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Joubert Syndrome 37
Microphthalmia OMIM:619185
Refsum Disease
Microphthalmia, Ataxia ORPHA:773
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Warburg Micro Syndrome 3
Inability to walk, Microphthalmia OMIM:614222
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia, Ataxia OMIM:278730
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
3P25.3 Microdeletion Syndrome
Microphthalmia, Ataxia ORPHA:435638
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ataxia ORPHA:369891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Joubert Syndrome 14
Microphthalmia, Ataxia OMIM:614424
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Gait disturbance OMIM:620098
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Ataxia OMIM:610651
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
3Q29 Microdeletion Syndrome
Microphthalmia, Gait disturbance ORPHA:65286
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Microphthalmia, Difficulty walking ORPHA:464738
Joubert Syndrome 2
Microphthalmia, Ataxia OMIM:608091
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Ataxia OMIM:251300
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Pelvis-Shoulder Dysplasia
Waddling gait, Bilateral microphthalmos ORPHA:2839
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Atelis Syndrome 2
Microphthalmia, Dysmetria OMIM:620185
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Cohen Syndrome
Microphthalmia ORPHA:193
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Histiocytoid Cardiomyopathy
Microphthalmia, Lethargy, Congenital aphakia ORPHA:137675
Hallermann-Streiff Syndrome
Choreoathetosis, Microphthalmia OMIM:234100
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Incontinentia Pigmenti
Microphthalmia, Gait disturbance ORPHA:464
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fryns Syndrome
Microphthalmia ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Oculodentodigital Dysplasia
Microphthalmia, Ataxia OMIM:164200
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Cousin Syndrome
Microphthalmia OMIM:260660
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Trisomy 18
Microphthalmia ORPHA:3380
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Cockayne Syndrome Type 3
Microphthalmia, Unsteady gait, Difficulty walking ORPHA:90324
Cat Eye Syndrome
Microphthalmia OMIM:115470
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Cockayne Syndrome
Ataxia, Inability to walk, Progressive gait ataxia, Gait disturbance, Difficulty walking, Microph... ORPHA:191
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Ataxia OMIM:133540
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Trichothiodystrophy
Bilateral microphthalmos, Gait ataxia ORPHA:33364
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Myhre Syndrome
Microphthalmia, Ataxia OMIM:139210
Fraser Syndrome 2
Microphthalmia OMIM:617666
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia ORPHA:50
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Aicardi Syndrome
Microphthalmia OMIM:304050
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Monosomy 9P
Microphthalmia ORPHA:261112
Mend Syndrome
Microphthalmia ORPHA:401973
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Fryns Syndrome
Microphthalmia OMIM:229850
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Roberts Syndrome
Microphthalmia ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia OMIM:300166
Degcags Syndrome
Microphthalmia OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Monosomy 13Q14
Microphthalmia ORPHA:1587
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos OMIM:214800
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Mowat-Wilson Syndrome
Inability to walk, Microphthalmia, Broad-based gait, Ataxia ORPHA:2152
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Microphthalmia, Broad-based gait ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Microphthalmia, Broad-based gait ORPHA:261552
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
OMIM:619173

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 Clcn6

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 Clcn6.

No publications found that use IMPC mice or data for Clcn6.

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
Clcn6tm294269(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Clcn6em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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