Gene Summary

Name:
jumonji domain containing 1C
Synonyms:
TRIP8,  D630035I23Rik,  5430433L24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Jmjd1ctm1a(EUCOMM)Wtsi HOM   Early adult 0.00
vertebral transformation Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 2.53×10-08
mydriasis Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 2.43×10-07
abnormal iris morphology Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 8.99×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Jmjd1c mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Jmjd1c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
22Q11.2 Deletion Syndrome
Cataract, Short neck, Scoliosis, Posterior embryotoxon, Corneal neovascularization ORPHA:567

The table below shows human diseases predicted to be associated to Jmjd1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity ORPHA:351
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Megalocornea
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... OMIM:309300
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Scoliosis ORPHA:101082
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Inhalational Botulism
Mydriasis ORPHA:254504
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Botulism
Mydriasis ORPHA:1267
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Foodborne Botulism
Mydriasis ORPHA:228371
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Coats Disease
Leukocoria OMIM:300216
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Short neck ORPHA:1617
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Serotonin Syndrome
Mydriasis ORPHA:43116
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Arachnoid Cyst
Back pain, Sciatica, Mydriasis ORPHA:2356
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Pituitary Apoplexy
Mydriasis ORPHA:95613
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis ORPHA:236
Osteopetrosis, Autosomal Recessive 5
Mydriasis OMIM:259720
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Platyspondyly, Mydriasis OMIM:619727
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Alexander Disease
Microcoria OMIM:203450
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Cocaine Intoxication
Mydriasis ORPHA:90068
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Alagille Syndrome
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Abnormal form of the vertebral bodies,... ORPHA:52
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Duane Retraction Syndrome
Central heterochromia, Short neck, Abnormal pupil morphology, Spina bifida occulta, Abnormal form... ORPHA:233
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Oculoauricular Syndrome
Posterior embryotoxon, Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Mic... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Scoliosis, Heterochromia iridis ORPHA:1764
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Spinal rigidity, Peters anomaly, Buphthalmos, Scoliosis, Persistent pupillary membrane OMIM:613150
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxation, Scoli... ORPHA:85167
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... ORPHA:2479
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Lumbar hyperlordosis, Abnormality iris morphology, Cataract ORPHA:370959
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Anisocoria, Abnormal pupil shape, Slow pupillary light response ORPHA:45358
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... OMIM:259770
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Ectopia pupillae, Scoliosis OMIM:618223
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Nephronophthisis 11
Anisocoria OMIM:613550
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Abnormal pupillary light reflex, Anisocoria, Scoliosis ORPHA:99949
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Weill-Marchesani Syndrome 2
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, S... OMIM:608328
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Kyphosis, Abnormal pupil morphology, Buphthal... ORPHA:534
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Scoliosis ORPHA:1556
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormality iris morphology, Abnormal form of the vertebral bodies ORPHA:2710
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Scoliosis OMIM:618653
Superficial Siderosis
Back pain, Anisocoria ORPHA:247245
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Retinoblastoma
Leukocoria OMIM:180200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Rieger anomaly, Kyphosis, Abnormal form of the vertebral bodies,... OMIM:194190
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Sponastrime Dysplasia
Lumbar hyperlordosis, Cataract, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondy... ORPHA:93357
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Scoliosis ORPHA:91387
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... ORPHA:91500
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Witteveen-Kolk Syndrome
Anisocoria, Cataract, Iris coloboma, Scoliosis OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... ORPHA:261552
Neurooculorenal Syndrome
Iris atrophy OMIM:620305
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
22Q11.2 Deletion Syndrome
Cataract, Short neck, Scoliosis, Posterior embryotoxon, Corneal neovascularization ORPHA:567

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 Jmjd1c

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 Jmjd1c.