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Gene: Khsrp MGI:1336214

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Gene Summary

Name:
KH-type splicing regulatory protein
Synonyms:
6330409F21Rik,  KSRP

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
eye hemorrhage Khsrpem1(IMPC)Mbp HOM Early adult 9.54×10-07
increased red blood cell distribution width Khsrpem1(IMPC)Mbp HOM Early adult 6.89×10-05
abnormal kidney morphology Khsrpem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Khsrpem1(IMPC)Mbp HOM Early adult 0.00
urinary bladder obstruction Khsrpem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Khsrpem1(IMPC)Mbp HOM Early adult 9.70×10-05
cataract Khsrpem1(IMPC)Mbp HOM   Early adult 2.80×10-08
decreased total body fat amount Khsrpem1(IMPC)Mbp HOM   Early adult 9.50×10-05
persistence of hyaloid vascular system Khsrpem1(IMPC)Mbp HOM Early adult 8.92×10-05

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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 Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Human diseases caused by Khsrp 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 Khsrp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou... OMIM:312700
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... OMIM:615382
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... OMIM:615631
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R... OMIM:619902
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... ORPHA:86841
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... OMIM:613673
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria,... OMIM:604273
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... OMIM:602088
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular catara... ORPHA:39044
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... ORPHA:98870
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... OMIM:616860
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Splenomegaly, Thrombocytopenia, Hepatosplenome... ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Subcapsular cataract, Tractional retinal detachment OMIM:601813
Vitreoretinochoroidopathy
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag... OMIM:193220
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... OMIM:616959
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... OMIM:611773
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Optic atr... OMIM:617303
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal... OMIM:193235
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... OMIM:300908
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney ORPHA:75858
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Phacoanaphylactic Uveitis
Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,... ORPHA:209959
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc... ORPHA:182050
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ecchymosis, ... ORPHA:99827
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnorma... ORPHA:891
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Exudative Vitreoretinopathy 1
Retinal detachment, Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization OMIM:133780
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Hepatomegaly, Long-chain di... OMIM:608836
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... ORPHA:464321
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Tricuspid regurgitation, Hepatosplenomeg... ORPHA:505248
Lujo Hemorrhagic Fever
Shock, Lymphopenia, Renal insufficiency, Excessive bleeding after a venipuncture, Myocarditis, Le... ORPHA:319213
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperte... ORPHA:251004
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
H Syndrome
Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physi... ORPHA:168569
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cy... OMIM:615415
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ... OMIM:261740
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... OMIM:276700
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia,... OMIM:608022
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Vasculitis ... OMIM:617718
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Inguinal hernia, Transient neutropenia... ORPHA:500095
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Supravalvar pu... OMIM:620185
Marburg Hemorrhagic Fever
Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal... ORPHA:99826
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Central Retinal Vein Occlusion
Papilledema, Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Macular degenerat... ORPHA:411527
Lymphoid Interstitial Pneumonia
Hepatomegaly, Raynaud phenomenon, Keratoconjunctivitis sicca, Pulmonary venous hypertension, Abno... ORPHA:79128
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Leptospirosis
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Conjunctival hypere... ORPHA:509
Macular Degeneration, Age-Related, 1
Geographic atrophy, Macular degeneration, Macular hemorrhage OMIM:603075
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connectiv... ORPHA:79277
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Glycogen Storage Disease Ia
Abnormal bleeding, Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glom... OMIM:232200
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... OMIM:222300
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Portal hypertension, Asplenia, Splenomegaly, Stage 5 chronic k... OMIM:208540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Prolonged bleeding ... ORPHA:79259
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo... OMIM:232220
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Limbal stem cell ... ORPHA:2334
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Renal malrotation, Lens ... OMIM:120330
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Telangiectasia of the skin, Multiple lipomas, Nephroblastoma, Enlarged kidney ORPHA:276280
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato... OMIM:618278
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... OMIM:212550
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney OMIM:618188
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ... OMIM:130650
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Refsum Disease, Classic
Cataract, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrh... OMIM:266500
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... ORPHA:731
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Epistaxis, Abn... ORPHA:33226
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Eosinophilia, Urinary bladder inflammation, Renal... ORPHA:449395
Familial Drusen
Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular... ORPHA:75376
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cockayne Syndrome Type 3
Flexion contracture, Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atroph... ORPHA:90324
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Lipodystrophy, Ure... ORPHA:79328
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Stage 5 chr... OMIM:308940
Beckwith-Wiedemann Syndrome
Omphalocele, Ureteral duplication, Inguinal hernia, Hepatomegaly, Nephroblastoma, Congenital diap... ORPHA:116
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Polycythemia, Cardiomegaly, Thrombocytopenia, Ventric... OMIM:300855
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Leukemia, Leukocoria OMIM:180200
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... OMIM:608978
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosaccharidu... ORPHA:309288
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Vesi... ORPHA:261552
Familial Isolated Hypoparathyroidism
Nephropathy, Arrhythmia, Cataract, Abnormal dental enamel morphology ORPHA:2238
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Pulmonic ste... OMIM:306955
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Heart murmur, Enuresis nocturna, Mitral regurgitation, Astigm... OMIM:615873
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Lentiglobus, Retinal degeneration, Hepatomegaly, Re... ORPHA:191
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Macular de... OMIM:177850
Microphthalmia, Syndromic 5
Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Micropenis OMIM:610125
Intermediate Uveitis
Cataract, Macular scar, Band keratopathy, Vasculitis, Tubulointerstitial nephritis, Posterior syn... ORPHA:279914
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Congenital diaphragmatic hernia, Enlarged... OMIM:618280
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Rift Valley Fever
Abnormal bleeding, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Hematuria, Gingival... ORPHA:319251
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Dent Disease
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... ORPHA:1652
Incontinentia Pigmenti
Retinal detachment, Cataract, Telangiectasia of the skin, Corneal opacity, Abnormal dental enamel... ORPHA:464
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, H... ORPHA:394
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph... ORPHA:324
Aniridia-Absent Patella Syndrome
Aniridia, Inguinal hernia, Cataract ORPHA:1069
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Enamel hypomineralization, Hypovolemia, Bicarbonat... ORPHA:47159
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ... ORPHA:79098
Incontinentia Pigmenti
Retinal detachment, Cataract, Scarring, Eosinophilia, Keratitis, Leukocytosis, Optic atrophy, Ret... OMIM:308300
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Hypospadias, Nephroblastoma, Congenital diaphragmatic hernia, Sple... OMIM:312870
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... OMIM:608710
Acro-Renal-Ocular Syndrome
Renal malrotation, Cataract, Renal hypoplasia/aplasia, Optic disc coloboma, Horseshoe kidney, Mic... ORPHA:959
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaci... OMIM:617913
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Congenital diaphragmatic hernia, Junctional ectopic tachycar... OMIM:309801
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... OMIM:175780
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Abnormal subcutaneous fat tissue distribution, Subretinal pigment... ORPHA:357074
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Flexion contracture, De... OMIM:300166
Trichinellosis
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Retinal hemorrhage ORPHA:863
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Retinal hemorrhage, Nephrocalcinosis,... ORPHA:51608
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482

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 Khsrp

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 Khsrp.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Khsrptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Khsrpem1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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