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Gene: Chrnd MGI:87893

Gene Summary

Name:

cholinergic receptor, nicotinic, delta polypeptide

Synonyms:

Achr-4, Acrd

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance	Chrnd^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Chrnd^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Chrnd^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Chrnd^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin morphology	Chrnd^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Chrnd^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal vitreous body morphology	Chrnd^em1(IMPC)Mbp	HET	Early adult	8.68×10^-06
microphthalmia	Chrnd^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Chrnd 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 Chrnd (5 diseases)
Human diseases predicted to be associated with Chrnd (397 diseases)

The table below shows human diseases associated to Chrnd by orthology or direct annotation.

Disease	Matching phenotypes	Source
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation	OMIM:253290
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency		OMIM:616323
Myasthenic Syndrome, Congenital, 3B, Fast-Channel		OMIM:616322
Postsynaptic Congenital Myasthenic Syndromes		ORPHA:98913
Myasthenic Syndrome, Congenital, 3A, Slow-Channel		OMIM:616321

The table below shows human diseases predicted to be associated to Chrnd 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 2	Microphthalmia	OMIM:610093
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
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
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cofs Syndrome	Microphthalmia	ORPHA:1466
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Pierpont Syndrome	Microphthalmia	OMIM:602342
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Lissencephaly 8	Microphthalmia	OMIM:617255
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular...	OMIM:120200
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Rodrigues Blindness	Microphthalmia	OMIM:268320
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Monosomy 18P	Microphthalmia	ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Temtamy Syndrome	Microphthalmia	OMIM:218340
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Moebius Syndrome	Microphthalmia	OMIM:157900
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Refsum Disease	Microphthalmia	ORPHA:773
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Micro Syndrome	Microphthalmia	ORPHA:2510
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy...	OMIM:609049
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Frontorhiny	Microphthalmia	ORPHA:391474
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Fryns Syndrome	Microphthalmia	ORPHA:2059
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Atelis Syndrome 2	Remnants of the hyaloid vascular system	OMIM:620185
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Cousin Syndrome	Microphthalmia	OMIM:260660
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Trisomy 18	Microphthalmia	ORPHA:3380
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Holoprosencephaly	Microphthalmia, Anophthalmia	ORPHA:2162
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Fryns Syndrome	Microphthalmia	OMIM:229850
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Roberts Syndrome	Microphthalmia	ORPHA:3103
Cockayne Syndrome	Microphthalmia	ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Microphthalmia, Syndromic 2	Remnants of the hyaloid vascular system, Retinal detachment, Hypospadias	OMIM:300166
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Degcags Syndrome	Microphthalmia	OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
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
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Holoprosencephaly 2	Remnants of the hyaloid vascular system	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation	OMIM:253290
Postsynaptic Congenital Myasthenic Syndromes		ORPHA:98913
Myasthenic Syndrome, Congenital, 3A, Slow-Channel		OMIM:616321
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency		OMIM:616323
Myasthenic Syndrome, Congenital, 3B, Fast-Channel		OMIM:616322

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 Chrnd

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Chrnd.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Chrnd^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Chrnd^em1(IMPC)Mbp	Inter-exon deletion	Mice
Chrnd^em1H	Point Mutation	Mice
Chrnd^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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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