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 iris morphology R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 9.02×10-06
mydriasis R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 4.97×10-05
persistence of hyaloid vascular system R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 2.92×10-11
decreased mean corpuscular hemoglobin R3hcc1ltm1b(KOMP)Wtsi HOM   Early adult 7.71×10-05
irregularly shaped pupil R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 3.94×10-06
abnormal placement of pupils R3hcc1ltm1b(KOMP)Wtsi HOM Early adult 2.23×10-05
decreased mean corpuscular volume R3hcc1ltm1b(KOMP)Wtsi HOM   Early adult 6.50×10-05

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Adult LacZ

LacZ Images Section

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

16 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

7 Images

Auditory Brain Stem Response

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

8 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
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Ectopia Pupillae
Ectopia pupillae OMIM:129750
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Retinal detach... ORPHA:39044
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Microcoria, Congenital
Miosis, Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Megalocornea
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism... OMIM:309300
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Chorio... ORPHA:231736
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Coats Disease
Exudative retinal detachment, Leukocoria OMIM:300216
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Microcornea, Coloboma, Cataract, Sclerocornea OMIM:615877
Inhalational Botulism
Mydriasis ORPHA:254504
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Facial Spasm
Anisocoria OMIM:134300
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Botulism
Mydriasis ORPHA:1267
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Colobom... ORPHA:85167
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Miosis, Retinal detachment, Iris coloboma, Cataract, Macular atrophy, Chorioretinal coloboma OMIM:212550
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Foodborne Botulism
Mydriasis ORPHA:228371
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Osteopetrosis, Autosomal Recessive 5
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... OMIM:259720
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract OMIM:263100
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Microcornea, Chorioretinal coloboma OMIM:601706
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Abnormal B cell morphology OMIM:618223
Nephronophthisis 11
Anemia, Anisocoria, Retinal degeneration OMIM:613550
Alexander Disease
Microcoria OMIM:203450
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment ORPHA:190
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Pituitary Apoplexy
Normochromic anemia, Mydriasis ORPHA:95613
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Microcornea, Peripheral retinal atrophy OMIM:615147
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma OMIM:610023
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Serotonin Syndrome
Mydriasis ORPHA:43116
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Retinal he... OMIM:175780
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Thymus hyperplasia, ... ORPHA:2969
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Chorioretinal coloboma OMIM:611638
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Arachnoid Cyst
Mydriasis ORPHA:2356
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Optic neuropathy, Optic nerve compression, Mydriasis OMIM:619727
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... ORPHA:98977
Cocaine Intoxication
Mydriasis ORPHA:90068
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Optic atrophy, Corneal erosion, Heterochromia iridis ORPHA:1764
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly, Accessory spleen OMIM:194190
Retinoblastoma
Retinal calcification, Leukemia, Leukocoria OMIM:180200
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Revesz Syndrome
Megalocornea, Aplastic anemia, Leukocoria OMIM:268130
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Charcot-Marie-Tooth Disease Type 1E
Tonic pupil, Anisocoria, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Anisocoria OMIM:231550
Mowat-Wilson Syndrome
Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma OMIM:235730
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... ORPHA:233
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Oculoauricular Syndrome
Microphakia, Retinal coloboma, Chorioretinal atrophy, Retinal detachment, Posterior embryotoxon, ... OMIM:612109
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Megalocornea, Retinal detachment, Coloboma, Optic atrophy, Cataract, Abno... ORPHA:370959
Idiopathic Anterior Uveitis
Miosis, Nuclear cataract, Increased cup-to-disc ratio, Posterior subcapsular cataract, Posterior ... ORPHA:280914
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Leukocoria, Subretinal pigment epithelium hemorrha... ORPHA:790
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Plague
Splenomegaly, Mydriasis, Conjunctival hyperemia ORPHA:707
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Retinal coloboma, Ectopia pupillae, Axenfeld anomaly, Microcornea, Ast... ORPHA:261552
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane OMIM:613150
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachment, Optic disc pallor,... OMIM:267750
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism ORPHA:261250
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Trichinellosis
Anisocoria, Retinal hemorrhage, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia ORPHA:863
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Norrie Disease
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Anterior cha... ORPHA:649
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Abnormal pupillary light reflex, Anisocoria ORPHA:99949
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria ORPHA:1556
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Megalocornea, Astigmatism, Iridodonesis, Hypoplasia of the ... ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus, Chorioretinal dys... ORPHA:534
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Megalocornea-Mental Retardation Syndrome
Iridodonesis, Megalocornea, Hypoplasia of the iris OMIM:249310
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Abnormality of retinal pigmentation, Papilledema, Iris nevus, Anterior chamber flare,... ORPHA:91500
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Superficial Siderosis
Anisocoria ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Iris atrophy OMIM:259770
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Oculodentodigital Dysplasia
Optic atrophy, Cataract, Microcornea, Abnormality iris morphology ORPHA:2710
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Iris atrophy OMIM:201180
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Weill-Marchesani Syndrome 2
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... OMIM:608328
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... OMIM:619539
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis ORPHA:330015
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Chorioretinal coloboma OMIM:157170
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract, Neutropenia ORPHA:93357
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria, Cataract OMIM:613406
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Microcornea, Iris coloboma, Developm... OMIM:300166
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214

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 (with selection cassette) Mice
R3hcc1ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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