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Gene: 4933430I17Rik MGI:3045314

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Gene Summary

Name:
RIKEN cDNA 4933430I17 gene
Synonyms:
N/A

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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
increased mean corpuscular volume 4933430I17Riktm1a(EUCOMM)Wtsi HOM Early adult 9.04×10-05
abnormal pancreas morphology 4933430I17Riktm1a(EUCOMM)Wtsi HOM Early adult 0.00
short tibia 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 3.24×10-05
increased cardiac muscle contractility 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 2.26×10-05
increased circulating alanine transaminase level 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 2.26×10-11

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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.

Echo

M-Mode Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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Gross Pathology and Tissue Collection

Images

1 Images

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Human diseases caused by 4933430I17Rik 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 4933430I17Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:606685
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... OMIM:302045
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Congestive heart fail... OMIM:604765
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Tibial Hemimelia
Absent tibia OMIM:275220
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Abnormality of t... ORPHA:2169
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... ORPHA:231222
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, ... ORPHA:811
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia ORPHA:261250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification OMIM:167800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial h... OMIM:263520
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Jaundice, Leukocytosis ORPHA:676
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts OMIM:211890
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Micrognathia, Abnormality of fibula morphology, Abnormality of the ... ORPHA:3035
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... OMIM:557000
Matthew-Wood Syndrome
Annular pancreas, Abnormal spleen morphology, Cryptorchidism, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Aceruloplasminemia
Refractory anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology, Hypochromic... ORPHA:48818
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Normocytic anemia, Neut... OMIM:617941
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Pulmona... OMIM:208500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Eisenmenger Syndrome
Increased mean corpuscular volume, Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency a... ORPHA:97214
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Jaundice ORPHA:160
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... ORPHA:198
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Abnormal salivary gland morphology, Abn... ORPHA:449432
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... OMIM:200980
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Portal hypertension, Pancreatic c... OMIM:263200
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... OMIM:236680
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Neutropenia OMIM:232220
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... ORPHA:699
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, ... OMIM:227646
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... OMIM:267010
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:616263
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hypocalcemia, Short ribs, Short humerus, Brachydactyly... OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Cystic liver disease, Cryptor... ORPHA:564
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Thrombocytopenia OMIM:147791
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... ORPHA:2753
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hepat... ORPHA:93111
Charge Syndrome
Absent tibia, Hypocalcemia, Bilateral talipes equinovarus, Pulmonic stenosis, Absent radius, Micr... OMIM:214800
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... ORPHA:731
Osteopathia Striata With Cranial Sclerosis
Clinodactyly of the 5th finger, Talipes equinovarus, Paranasal sinus hypoplasia, Arachnodactyly, ... OMIM:300373
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Thrombocytopenia ORPHA:2308
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Distal Monosomy 12Q
Biliary atresia, Pituitary adenoma, Annular pancreas, Unilateral cryptorchidism ORPHA:96149
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism ORPHA:264450
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism OMIM:268400
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism OMIM:616975
Fryns Syndrome
Cryptorchidism, Polysplenia, Ectopic pancreatic tissue OMIM:229850
Schinzel-Giedion Syndrome
Annular pancreas, Hepatoblastoma, Myeloid leukemia, Streak ovary ORPHA:798
1P36 Deletion Syndrome
Annular pancreas, Abnormality of the spleen, Cryptorchidism, Hepatic steatosis, Abnormality of th... ORPHA:1606
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Asplenia OMIM:265380

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 4933430I17Rik

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 4933430I17Rik.

No publications found that use IMPC mice or data for 4933430I17Rik.

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MGI Allele Allele Type Produced
4933430I17Riktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
4933430I17Riktm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
4933430I17Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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