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Gene: Clcn6 MGI:1347049

Gene Summary

Name:

chloride channel, voltage-sensitive 6

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Clcn6^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Clcn6^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Clcn6^em1(IMPC)Mbp	HOM	Early adult	1.10×10^-10

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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.

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.

Human diseases associated with Clcn6 (1 diseases)
Human diseases predicted to be associated with Clcn6 (396 diseases)

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	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.

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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
Clcn6^{tm294269(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Clcn6^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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