Gene Summary

Name:
REV3 like, DNA directed polymerase zeta catalytic subunit
Synonyms:
Rev,  Sez4

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
hyperactivity Rev3ltm1b(EUCOMM)Hmgu HET Early adult 2.23×10-06
decreased circulating creatinine level Rev3ltm1b(EUCOMM)Hmgu HET Early adult 6.36×10-05
decreased mean corpuscular volume Rev3ltm1b(EUCOMM)Hmgu HET   Early adult 7.28×10-05
preweaning lethality, complete penetrance Rev3ltm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased mean corpuscular hemoglobin concentration Rev3ltm1b(EUCOMM)Hmgu HET   Early adult 6.47×10-06
abnormal retina morphology Rev3ltm1b(EUCOMM)Hmgu HET   Early adult 3.06×10-05
decreased blood urea nitrogen level Rev3ltm1b(EUCOMM)Hmgu HET Early adult 1.06×10-05
cataract Rev3ltm1b(EUCOMM)Hmgu HET Early adult 5.93×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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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)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  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)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  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)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
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)
Brown adipose tissue 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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
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)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thalamus 0.0%
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
urinary bladder 0.0%
uterus 0.37% (2 of 535)
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 1.74% (6 of 344)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
midbrain 0.28% (1 of 354)
nose 1.89% (1 of 53)
oral cavity 0.0%
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)

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

41 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Rev3l 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 Rev3l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Moebius Syndrome
Corneal opacity ORPHA:570

The table below shows human diseases predicted to be associated to Rev3l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Ectopia lentis OMIM:238700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
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
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Morm Syndrome
Retinal atrophy, Hyperactivity, Cataract, Retinal dystrophy ORPHA:75858
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
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
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage OMIM:613390
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, ... OMIM:204000
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperglycinuria, Hyperactivity, Hyperprolinemia OMIM:239500
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia OMIM:613154
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal... ORPHA:414
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Immunodeficiency 54
Chromosome breakage OMIM:609981
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
N Syndrome
Abnormality of chromosome stability OMIM:310465
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Phenylketonuria
Hyperactivity, Blue irides, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disor... OMIM:261600
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
C3 Glomerulopathy
Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/white les... ORPHA:329918
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyper... OMIM:277410
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Cataract, Elevated transferrin saturation OMIM:606069
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency anemia, Asti... OMIM:618885
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Elevated levels of phytanic acid OMIM:614879
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Papillorenal Syndrome
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... OMIM:120330
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration, Retinal dystrophy OMIM:266900
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Increased level of galactitol in... OMIM:230400
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Cataract, Epiretinal memb... ORPHA:279914
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Cataract, Attenuation of retinal blood vessels OMIM:614376
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cataract 47
Cataract, Microcornea OMIM:612018
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Normocytic anemia, Retinal neovascularizatio... ORPHA:247691
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Aminoaciduria, Abnorm... ORPHA:91500
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Wolfram Syndrome 1
Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Cataract, Siderobl... OMIM:222300
Histidinemia
Hyperhistidinemia, Histidinuria, Hyperactivity ORPHA:2157
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism ORPHA:261250
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Chromosome breakage OMIM:614083
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... ORPHA:811
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... ORPHA:85450
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Cataract, Retinal degeneration OMIM:277700
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Uveal ectropion, Retinal detachment, Po... OMIM:609049
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents OMIM:600901
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents OMIM:227650
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... ORPHA:330015
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Corneal c... ORPHA:411634
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Icf Syndrome
Abnormality of chromosome stability, Umbilical hernia ORPHA:2268
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents OMIM:227645
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Recurrent corneal erosions, Opaci... OMIM:256800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents OMIM:227646
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Oligomeganephronia
Elevated circulating creatinine concentration, Optic disc coloboma ORPHA:2260
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Argininemia
Hyperargininemia, Diaminoaciduria, Hyperactivity, Hyperammonemia OMIM:207800
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Cartilage-Hair Hypoplasia
Spinal dysraphism, Abnormality of chromosome stability ORPHA:175
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... ORPHA:97214
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Retinal degeneration, Pigmentary retinopathy, Acanthocytosis, Optic atrophy OMIM:234200
Yellow Fever
Neutrophilia, Leukocytosis, Hyperbilirubinemia, Elevated circulating creatine kinase concentratio... ORPHA:99829
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:449395
Fanconi Anemia
Spina bifida, Abnormality of chromosome stability, Umbilical hernia ORPHA:84
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... OMIM:619534
Moebius Syndrome
Corneal opacity ORPHA:570

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 Rev3l

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 Rev3l.

No publications found that use IMPC mice or data for Rev3l.

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MGI Allele Allele Type Produced
Rev3ltm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rev3ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rev3ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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