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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
increased freezing behavior	Clcn6^em1(IMPC)Mbp	HOM	Early adult	3.65×10^-05
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	1.96×10^-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 (401 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	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Gombo Syndrome	Microphthalmia	OMIM:233270
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity, Microphthalmia	OMIM:274270
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Ataxia	OMIM:278780
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Developmental And Epileptic Encephalopathy 1	Dysphagia, Choreoathetosis, Microphthalmia	OMIM:308350
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Dysmetria, Ataxia	ORPHA:48431
Myoclonic-Astatic Epilepsy	Abnormal emotion, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Microphthalmia...	ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Microphthalmia	OMIM:613155
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cofs Syndrome	Microphthalmia	ORPHA:1466
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
17Q12 Microduplication Syndrome	Self-injurious behavior, Microphthalmia	ORPHA:261272
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Microphthalmia	OMIM:618805
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation	ORPHA:100924
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Aggressive behavior, Microphthalmia, Lens coloboma, Motor stereotypy, Im...	OMIM:618914
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Microphthalmia, Waddling gait	ORPHA:2788
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Pierpont Syndrome	Microphthalmia	OMIM:602342
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Aggressive behavior, Attention deficit hyperactivity disorder, Agitation, Microphthalmia	OMIM:152950
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Overfriendliness, Aggressive behavior, Hyperactivity, Ataxia, Restlessn...	ORPHA:369891
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Moebius Syndrome	Gait disturbance, Dysphagia, Dysdiadochokinesis, Microphthalmia	OMIM:157900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Lissencephaly 8	Microphthalmia	OMIM:617255
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Inability to walk, Dysphagia, Microphthalmia	OMIM:618494
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, Microphthalmia, ...	OMIM:620098
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Microphthalmia	ORPHA:494344
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Temtamy Syndrome	Self-mutilation, Microphthalmia	OMIM:218340
Congenital Disorder Of Glycosylation, Type Iq	Dysphagia, Microphthalmia	OMIM:612379
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Fanconi Anemia, Complementation Group S	Microphthalmia, Ataxia	OMIM:617883
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
3P25.3 Microdeletion Syndrome	Microphthalmia, Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	ORPHA:435638
3Q29 Microdeletion Syndrome	Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, Micr...	ORPHA:65286
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Norrie Disease	Aggressive behavior, Buphthalmos, Hypoplasia of the iris, Microphthalmia	OMIM:310600
Microcephaly 20, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Joubert Syndrome 14	Ataxia, Microphthalmia, Irritability	OMIM:614424
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Compulsive behaviors, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:404440
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Difficulty walking, Gait disturbance, Inability to walk, Microphthalmia	OMIM:618571
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:3378
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Warburg Micro Syndrome 4	Inability to walk, Microphthalmia	OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Refsum Disease	Microphthalmia, Ataxia	ORPHA:773
Monosomy 18P	Microphthalmia	ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Rodrigues Blindness	Microphthalmia	OMIM:268320
Warburg Micro Syndrome 3	Inability to walk, Microphthalmia	OMIM:614222
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Choreoathetosis, Ataxia	OMIM:278730
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Basel-Vanagaite-Smirin-Yosef Syndrome	Difficulty walking, Aggressive behavior, Inability to walk, Microphthalmia	ORPHA:464738
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ataxia	OMIM:610651
Chromosome 13Q33-Q34 Deletion Syndrome	Aggressive behavior, Hyperactivity, Microphthalmia	OMIM:619148
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Microphthalmia, Lenz Type	Self-injurious behavior, Microphthalmia	ORPHA:568
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Dysmetria, Microphthalmia	OMIM:620185
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
1Q21.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Depression, Microphthalmia	ORPHA:250989
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Joubert Syndrome 2	Microphthalmia, Ataxia	OMIM:608091
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Hallermann-Streiff Syndrome	Hyperactivity, Choreoathetosis, Microphthalmia	OMIM:234100
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris, Ataxia	OMIM:251300
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Incontinentia Pigmenti	Attention deficit hyperactivity disorder, Gait disturbance, Microphthalmia	ORPHA:464
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Waddling gait	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Dubowitz Syndrome	Hypoplasia of the iris, Hyperactivity, Microphthalmia	OMIM:223370
Histiocytoid Cardiomyopathy	Lethargy, Congenital aphakia, Microphthalmia	ORPHA:137675
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Monosomy 9Q22.3	Hyperactivity, Microphthalmia	ORPHA:77301
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Fryns Syndrome	Microphthalmia	ORPHA:2059
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Optic nerve hypoplasia, Microphthalmia	OMIM:236670
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Mend Syndrome	Aggressive behavior, Hyperactivity, Microphthalmia	ORPHA:401973
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Oculodentodigital Dysplasia	Microphthalmia, Ataxia	OMIM:164200
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, Microphthalmia, Co...	ORPHA:534
Fanconi Anemia, Complementation Group L	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:614083
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Motor stereotypy, Microphthalmia	ORPHA:508498
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group D2	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:227646
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Cousin Syndrome	Microphthalmia	OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Trisomy 18	Microphthalmia	ORPHA:3380
Holoprosencephaly	Anophthalmia, Microphthalmia	ORPHA:2162
Cockayne Syndrome Type 3	Difficulty walking, Unsteady gait, Microphthalmia	ORPHA:90324
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Cockayne Syndrome	Difficulty walking, Inability to walk, Progressive gait ataxia, Gait disturbance, Ataxia, Microph...	ORPHA:191
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris, Ataxia	OMIM:133540
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:616975
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Motor stereotypy, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Trichothiodystrophy	Gait ataxia, Bilateral microphthalmos	ORPHA:33364
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Myhre Syndrome	Microphthalmia, Ataxia	OMIM:139210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
22Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Depression, Microphthalmia	ORPHA:567
Norrie Disease	Self-injurious behavior, Hypoplasia of the iris, Irritability, Attention deficit hyperactivity di...	ORPHA:649
Charge Syndrome	Anophthalmia, Attention deficit hyperactivity disorder, Microphthalmia, Compulsive behaviors, Dys...	ORPHA:138
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:564
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Aicardi Syndrome	Microphthalmia	ORPHA:50
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Degcags Syndrome	Choking episodes, Oral-pharyngeal dysphagia, Microphthalmia	OMIM:619488
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Aicardi Syndrome	Microphthalmia	OMIM:304050
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Motor stereotypy, Microphthalmia	OMIM:612474
Fryns Syndrome	Microphthalmia	OMIM:229850
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy, Microphthalmia	OMIM:309000
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 2	Phthisis bulbi, Anophthalmia, Microphthalmia	OMIM:300166
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Neuroocular Syndrome 1	Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Lens coloboma, Microphthalmia	OMIM:619539
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Witteveen-Kolk Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Microphthalmia	OMIM:613406
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Low frustration tolerance, Hyperactivity, Tics, Dysphagia, Optic nerve ...	ORPHA:508488
Focal Dermal Hypoplasia	Aniridia, Anophthalmia, Microphthalmia	OMIM:305600
Charge Syndrome	Unilateral microphthalmos, Anophthalmia, Self-mutilation, Microphthalmia, Dysphagia	OMIM:214800
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Pallister-Hall Syndrome	Paroxysmal bursts of laughter, Microphthalmia	ORPHA:672
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Mowat-Wilson Syndrome	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Ataxia, Microphthalmia, Motor stereotypy	ORPHA:2152
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Motor stereotypy	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Motor stereotypy	ORPHA:261552
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Branchiooculofacial Syndrome	Anophthalmia, Microphthalmia	OMIM:113620
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Microphthalmia, Syndromic 1	Aggressive behavior, Anophthalmia, Self-mutilation, Microphthalmia	OMIM:309800
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210
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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