Gene Summary

Name:
R3H domain and coiled-coil containing 1 like
Synonyms:
1700036B12Rik,  D19Ertd386e

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 placement of pupils R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 2.09×10-05
abnormal iris morphology R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 1.16×10-05
mydriasis R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 5.25×10-05
irregularly shaped pupil R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 5.19×10-06
persistence of hyaloid vascular system R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 4.34×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

20 Images

Adult LacZ

LacZ Images Section

25 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

16 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by R3hcc1l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to R3hcc1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Ectopia Pupillae
Ectopia pupillae OMIM:129750
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Ciliary body melanoma, Zonular cataract... ORPHA:39044
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Coats Disease
Leukocoria, Exudative retinal detachment OMIM:300216
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Facial Spasm
Anisocoria OMIM:134300
Anisocoria
Anisocoria OMIM:106240
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea, Retinal detachment OMIM:610202
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina OMIM:263100
Inhalational Botulism
Mydriasis ORPHA:254504
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Cataract, Retinal detachment, Miosis OMIM:212550
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Botulism
Mydriasis ORPHA:1267
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Optic atrophy OMIM:618727
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Foodborne Botulism
Mydriasis ORPHA:228371
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Aniridia 2
Cataract, Aniridia OMIM:617141
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris, Retinal detachment ORPHA:190
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Dilution, Pigmentary
Iris hypopigmentation OMIM:126070
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Coloboma OMIM:610023
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Serotonin Syndrome
Mydriasis ORPHA:43116
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:2921
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Peters anomaly,... OMIM:120200
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Pituitary Apoplexy
Mydriasis ORPHA:95613
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma ORPHA:1259
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Autosomal Dominant Keratitis
Aniridia, Coloboma, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypopl... ORPHA:2334
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Juvenile Glaucoma
Abnormality iris morphology, Temporal optic disc pallor, Increased cup-to-disc ratio, Optic neuro... ORPHA:98977
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Corneal opacity, Optic atrophy, Abnormal pupil morphology ORPHA:1764
Cocaine Intoxication
Mydriasis ORPHA:90068
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Anisocoria OMIM:231550
Scorpion Envenomation
Mydriasis, Miosis ORPHA:466677
Charcot-Marie-Tooth Disease Type 1E
Tonic pupil, Abnormal pupil morphology, Anisocoria, Slow pupillary light response ORPHA:90658
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Mowat-Wilson Syndrome
Chorioretinal coloboma, Iris coloboma, Ectopia pupillae, Cataract, Microcornea OMIM:235730
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis OMIM:601552
Duane Retraction Syndrome
Aniridia, Central heterochromia, Chorioretinal coloboma, Iris coloboma, Microcornea, Hypoplastic ... ORPHA:233
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Retinoblastoma
Leukocoria, Retinal calcification OMIM:180200
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Coloboma, Cataract, Megalocornea, Optic nerve hypoplasia, Retinal de... ORPHA:370959
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea OMIM:257850
Retinoblastoma
Abnormality of retinal pigmentation, Heterochromia iridis, Retinal calcification, Subretinal pigm... ORPHA:790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Retinal coloboma, Axenfeld anomaly, Iris coloboma, Ectopia pupillae, Cataract, Microcornea, Iris ... ORPHA:261552
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Trichinellosis
Anisocoria, Abnormal uvea morphology, Conjunctivitis, Retinal hemorrhage, Conjunctival hyperemia ORPHA:863
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Anterior chamber syne... ORPHA:649
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Optic disc drusen, Abnormal pupillary light reflex, Choriore... ORPHA:364055
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment ORPHA:1556
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Abnormal anterior chamber morphology, Astigma... ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis OMIM:249310
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Anisocoria, Abnormal pupillary light reflex ORPHA:99949
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Chorioretinal dysplasia, Corneal opacity, Cataract, Abnormal pupil morp... ORPHA:534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Absent anterior chamber of the eye OMIM:259770
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria OMIM:613406
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Lens luxation, Ectopia lentis, Microspherophakia, Iridodonesis, Catarac... OMIM:608328
Oculodentodigital Dysplasia
Cataract, Microcornea, Optic atrophy, Abnormality iris morphology ORPHA:2710
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Iris atrophy OMIM:201180
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Neurofibromatosis Type 2
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Panuveitis, Intermediate uveitis, Papilledema, Anterior cham... ORPHA:91500
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Microphthalmia, Syndromic 2
Developmental cataract, Remnants of the hyaloid vascular system, Iris coloboma, Microcornea, Reti... OMIM:300166
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

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 R3hcc1l

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 R3hcc1l.

No publications found that use IMPC mice or data for R3hcc1l.

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MGI Allele Allele Type Produced
R3hcc1ltm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
R3hcc1ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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