Gene: 4933430I17Rik MGI:3045314

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Gene Summary

Name:
RIKEN cDNA 4933430I17 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 pancreas morphology 4933430I17Riktm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating alanine transaminase level 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 2.26×10-11
increased cardiac muscle contractility 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 2.26×10-05
increased mean corpuscular volume 4933430I17Riktm1a(EUCOMM)Wtsi HOM Early adult 9.04×10-05
short tibia 4933430I17Riktm1b(EUCOMM)Wtsi HOM Early adult 3.24×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Echo

M-Mode Images

14 Images

Gross Pathology and Tissue Collection

Images

1 Images

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
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Tibial Hemimelia
Absent tibia OMIM:275220
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Panc... ORPHA:2169
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Hypocalcemia, ... OMIM:607143
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Erythroid hyperplasia, Elevated hepatic iron conc... ORPHA:231222
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... OMIM:251230
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Slc35A2-Cdg
Metatarsus adductus, Increased circulating thyroglobulin level, Talipes equinovarus, Aplasia/hypo... ORPHA:356961
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Re... OMIM:618278
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Pe... ORPHA:231226
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume ORPHA:261250
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fib... ORPHA:231214
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism ORPHA:2849
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... ORPHA:103918
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Campomelia, Cumming Type
Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Refractory sideroblastic anemia OMIM:557000
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia OMIM:260370
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Cryptorchidism, Abnormal spleen morphology ORPHA:2470
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Aceruloplasminemia
Abnormal pancreas morphology, Refractory anemia, Hypochromic microcytic anemia, Elevated hepatic ... ORPHA:48818
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Irregular epiphyses, Early ossification of capital femoral epiphyses, Hy... OMIM:208500
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Anemia, Jaundice ORPHA:160
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Eisenmenger Syndrome
Hepatomegaly, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency a... ORPHA:97214
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fi... ORPHA:449432
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Fanconi Anemia, Complementation Group D2
Neutropenia, Annular pancreas, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopeni... OMIM:227646
Pearson Syndrome
Hepatomegaly, Hypoparathyroidism, Neutropenia, Macronodular cirrhosis, Decreased response to grow... ORPHA:699
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis OMIM:200995
Von Hippel-Lindau Syndrome
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver, Pheochromocytoma OMIM:193300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Meckel Syndrome, Type 7
Pancreatic cysts, Bile duct proliferation, Hepatosplenomegaly, Cholestasis, Biliary cirrhosis, Po... OMIM:267010
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis OMIM:616263
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Hypoca... OMIM:218330
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Feingold Syndrome 1
Accessory spleen, Polysplenia, Asplenia, Annular pancreas OMIM:164280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Meckel Syndrome
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... ORPHA:564
Beckwith-Wiedemann Syndrome
Hepatomegaly, Polycythemia, Hepatoblastoma, Splenomegaly, Pseudohypoparathyroidism, Abnormal panc... ORPHA:116
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Jacobsen Syndrome
Thrombocytopenia, Cryptorchidism, Annular pancreas OMIM:147791
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Hypocalcemia, Absent radius, Pulmonic ... OMIM:214800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... ORPHA:731
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... OMIM:300373
Jacobsen Syndrome
Thrombocytopenia, Cryptorchidism, Annular pancreas ORPHA:2308
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Distal Monosomy 12Q
Pituitary adenoma, Unilateral cryptorchidism, Biliary atresia, Annular pancreas ORPHA:96149
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Annular pancreas ORPHA:264450
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas OMIM:268400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas OMIM:616975
Schinzel-Giedion Syndrome
Myeloid leukemia, Hepatoblastoma, Streak ovary, Annular pancreas ORPHA:798
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
1P36 Deletion Syndrome
Abnormality of the spleen, Annular pancreas, Abnormality of the liver, Hepatic steatosis, Cryptor... ORPHA:1606
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas 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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