Gene: 2610008E11Rik MGI:1919378

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Gene Summary

Name:
RIKEN cDNA 2610008E11 gene
Synonyms:
N/A

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 heart morphology 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
cataract 2610008E11Rikem1(IMPC)Mbp HOM   Early adult 6.93×10-05
abnormal liver morphology 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
small heart 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology 2610008E11Rikem1(IMPC)Mbp HOM   Early adult 5.71×10-05
small liver 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology 2610008E11Rikem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by 2610008E11Rik 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 2610008E11Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... OMIM:614876
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Cataract OMIM:230200
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ventricular septal defect, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic rena... OMIM:613730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Renal ... OMIM:608836
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney ORPHA:75858
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Hypertrophic cardiomyopathy, Spleno... OMIM:617303
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Galactose Mutarotase Deficiency
Cholestasis, Cataract, Decreased liver function, Hepatomegaly ORPHA:570422
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy, Decreased liver function, 3-Methylglutaconic aci... ORPHA:67048
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly OMIM:204000
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cardiac-Urogenital Syndrome
Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ... OMIM:618280
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Hematuria, Posterior embryotoxon, Retinal detachment, Corneal opacity, I... ORPHA:1473
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Neph... OMIM:105120
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Cirrhosis, Hepatomegaly OMIM:606069
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Tetralogy of Fallot, Renal insufficienc... OMIM:610205
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormal heart morphology, Heparan sulfate excretion in urine, Hepatosplenomegaly,... ORPHA:505248
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, P... OMIM:261740
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Tubulointerstitial ... ORPHA:449395
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine a... OMIM:618805
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Retinal coloboma, Bi... ORPHA:500095
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity, Cataract OMIM:620425
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Abnormality of... ORPHA:290
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pericardial e... ORPHA:464329
Coats Disease
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morp... ORPHA:79328
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Cataract, Anterior lenticonus, Glomerular base... OMIM:203780
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney ORPHA:79128
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circ... OMIM:620609
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Decreased liver function, Elevated circulating aspartate a... OMIM:230400
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Joubert Syndrome 9
Hepatic fibrosis, Cataract, Stage 5 chronic kidney disease, Astigmatism OMIM:612285
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-l... OMIM:256550
Mucolipidosis Ii Alpha/Beta
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hep... OMIM:252500
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Abnormal heart morphology, Patent foramen ovale, Ve... ORPHA:488618
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria ORPHA:251004
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Corneal arcus, Enlarged kidney ORPHA:168569
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ... OMIM:120200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic steatosis, Nephrolithiasis, Proteinuria... ORPHA:79259
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener... OMIM:120330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Abnormal heart morphology, Opacification of the ... OMIM:214110
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Abnormalit... ORPHA:93399
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Refsum Disease, Classic
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Abnormal renal physiology OMIM:266500
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hype... ORPHA:116
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulon... OMIM:614376
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Microvesicular hepatic steatosis, Cardiomega... OMIM:300855
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Pierson Syndrome
Cataract, Hypoplasia of the iris, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Rieger ... OMIM:609049
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Leprechaunism
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa... ORPHA:508
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Astigmatism, Mi... OMIM:615873
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Renal insufficiency, Mitral valve prolapse OMIM:247410
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Cardiomyopathy... OMIM:312870
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... OMIM:268315
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma OMIM:212550
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... OMIM:616468
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros... OMIM:243605
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Central heterochromia, Splenomegaly, Abnormality of ... ORPHA:744
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... ORPHA:1571
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Multicystic kidney dysplasia, Optic atrophy, Pancreatic ... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Cataract, Pigmentary retinopathy, Peters anomaly, Histiocytoid cardiomyopathy, Ventr... OMIM:309801
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ... OMIM:612109
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunctivitis, C... OMIM:269200
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Pulmonic stenosis, Developmental cataract, Remnants of the hyaloi... OMIM:620185
Relapsing Polychondritis
Cataract, Keratitis, Hepatitis, Renal insufficiency, Abnormal aortic valve morphology, Hematuria,... ORPHA:728
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hypospadias, Microcornea, Mitral valve prolapse, Ventricular septal defect... OMIM:300166
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Patent foramen ovale, Blue irides, Remnants of the hyaloid... OMIM:619539
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... ORPHA:649
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Holoprosencephaly 2
Iris coloboma, Remnants of the hyaloid vascular system, Single ventricle OMIM:157170

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 2610008E11Rik

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 2610008E11Rik.

No publications found that use IMPC mice or data for 2610008E11Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
2610008E11Riktm246949(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
2610008E11Riktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
2610008E11Rikem1(IMPC)Mbp Exon Deletion Mice

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