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
abnormal iris morphology Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 8.99×10-05
mydriasis Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 2.43×10-07
preweaning lethality, incomplete penetrance Jmjd1ctm1a(EUCOMM)Wtsi HOM   Early adult 0.00
vertebral transformation Jmjd1ctm1a(EUCOMM)Wtsi HET Early adult 2.53×10-08

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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 Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

14 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
Short neck, Posterior embryotoxon, Cataract, Scoliosis, 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
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 verte... OMIM:613702
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Galactosialidosis
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology ORPHA:351
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Facial Spasm
Anisocoria OMIM:134300
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Anisocoria
Anisocoria OMIM:106240
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Scoliosis ORPHA:101082
Iatrogenic Botulism
Mydriasis ORPHA:254509
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... 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
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Coats Disease
Leukocoria OMIM:300216
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
2Q24 Microdeletion Syndrome
Cataract, Short neck, Abnormality iris morphology ORPHA:1617
Aniridia 2
Cataract, Aniridia OMIM:617141
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Serotonin Syndrome
Mydriasis ORPHA:43116
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Arachnoid Cyst
Sciatica, Mydriasis, Back pain ORPHA:2356
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Osteopetrosis, Autosomal Recessive 5
Mydriasis OMIM:259720
Trisomy 9P
Kyphosis, Short neck, Sacral dimple, Abnormal pupil morphology, Scoliosis ORPHA:236
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Pituitary Apoplexy
Mydriasis ORPHA:95613
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Increased intervertebral space, Platyspondyly OMIM:619727
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Microcornea ORPHA:231736
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... ORPHA:209959
Cocaine Intoxication
Mydriasis ORPHA:90068
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Alagille Syndrome
Abnormal form of the vertebral bodies, Corneal dystrophy, Abnormal pupil morphology, Spina bifida... ORPHA:52
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Scorpion Envenomation
Mydriasis, Miosis ORPHA:466677
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Short neck, Abnormal form of the vertebral bodies,... ORPHA:233
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior em... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Familial Dysautonomia
Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Scoliosis, Corneal erosion ORPHA:1764
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Kyphosis, Iridodonesis, Hypoplasia of the iris, Astigmatism... ORPHA:2479
Proteus-Like Syndrome
Abnormal pupil morphology, Cataract, Heterochromia iridis, Limbal dermoid ORPHA:2969
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Scoliosis, Ectopia pupillae, Hemivertebrae OMIM:618223
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ovoid vertebral bodies, Corneal opacity, Lens subluxation, Platyspondyly, Scoliosis, Ectopia pupi... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Peters anomaly, Scoliosis, Spinal rigidity, Buphthalmos OMIM:613150
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... ORPHA:67042
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cataract, Megalocornea, Abnormality iris morphology ORPHA:370959
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria ORPHA:90658
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Ectopia lentis, Iris atrophy OMIM:601552
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Platyspondyly, Kyphoscoliosis, Iris atrophy OMIM:259770
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Nephronophthisis 11
Anisocoria OMIM:613550
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Hypoplasia of the iris, Cataract, Posterior lent... OMIM:609049
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Scoliosis, Spinal deformities, Anisocoria ORPHA:99949
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Persistent pupillary membrane, Lens subluxation, Cortic... OMIM:267750
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Megalocornea-Mental Retardation Syndrome
Megalocornea, Iridodonesis, Hypoplasia of the iris OMIM:249310
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Iridodonesis, Cataract, Astigmatism, Lumbar hyperlordosis, Scoliosis, S... OMIM:608328
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Cataract, Corneal opacity, Aplasia/Hypoplasia of the lens, ... ORPHA:649
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Kyphosis, Chorioretinal dysplasia, Cataract, Corneal opacity, Platyspondyly, Abnorma... ORPHA:534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Cutis Marmorata Telangiectatica Congenita
Scoliosis, Leukocoria ORPHA:1556
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormal form of the vertebral bodies, Abnormality iris morphology ORPHA:2710
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Scoliosis, Anisocoria OMIM:618653
Retinoblastoma
Hypopyon, Leukocoria, Uveitis, Heterochromia iridis ORPHA:790
Retinoblastoma
Leukocoria OMIM:180200
Superficial Siderosis
Back pain, Anisocoria ORPHA:247245
Sponastrime Dysplasia
Abnormality of the vertebral column, Congenital aphakia, Cataract, Platyspondyly, Lumbar hyperlor... ORPHA:93357
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Sacral dimple, Scoliosis, Ectopia pupillae, Rieg... OMIM:194190
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Scoliosis, Abnormality iris morphology ORPHA:91387
Witteveen-Kolk Syndrome
Scoliosis, Iris coloboma, Anisocoria OMIM:613406
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Tubulointerstitial Nephritis And Uveitis Syndrome
Anterior chamber flare, Chorioretinal scar, Posterior uveitis, Cataract, Iris nevus, Intermediate... ORPHA:91500
Neonatal Marfan Syndrome
Megalocornea, Ectopia lentis, Iridodonesis ORPHA:284979
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Mowat-Wilson Syndrome
Chorioretinal coloboma, Microcornea, Cataract, Ectopia pupillae, Iris coloboma OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microcornea, Astigmatism, Cataract, Iris atrophy, Abnormal pupil morphology, Scoliosis, Ectopia p... ORPHA:261552
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus ORPHA:286
22Q11.2 Deletion Syndrome
Short neck, Posterior embryotoxon, Cataract, Scoliosis, 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.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Jmjd1ctm1a(EUCOMM)Wtsi PMC7263671
Histone demethylase JMJD1C is phosphorylated by mTOR to activate de novo lipogenesis. Nature communications (February 2020) Jmjd1ctm1a(EUCOMM)Wtsi PMC7005700
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Jmjd1ctm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Jmjd1ctm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Jmjd1ctm1a(EUCOMM)Wtsi