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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
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
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 mean corpuscular volume 4933430I17Riktm1a(EUCOMM)Wtsi HOM Early adult 9.04×10-05

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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 Dorso Ventral

20 Images

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Echo

M-Mode Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Tibial Hemimelia
Absent tibia OMIM:275220
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu... ORPHA:2169
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e... OMIM:620306
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Cirrhos... OMIM:127550
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El... ORPHA:300298
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... OMIM:607143
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Shox-Related Short Stature
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... OMIM:307800
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... OMIM:263520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia... ORPHA:96334
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Jaundice, Anemia ORPHA:160
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Abnormality of the liver, In... ORPHA:97214
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... ORPHA:449432
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreatitis OMIM:232220
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Annular pancreas, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... OMIM:227646
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Hepatic hemangioma, Pheochromocytoma, Polycythemia OMIM:193300
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Bohring-Opitz Syndrome
Supernumerary nipple, Hyperechogenic pancreas OMIM:605039
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... ORPHA:564
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohypoparathyroidis... ORPHA:116
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Thrombocytopenia OMIM:147791
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... ORPHA:93111
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... OMIM:300373
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Thrombocytopenia ORPHA:2308
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Distal Deletion 12Q
Unilateral cryptorchidism, Annular pancreas, Biliary atresia, Pituitary adenoma ORPHA:96149
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas OMIM:616975
Fryns Syndrome
Cryptorchidism, Ectopic pancreatic tissue, Polysplenia OMIM:229850
Schinzel-Giedion Syndrome
Hepatoblastoma, Myeloid leukemia, Streak ovary, Annular pancreas ORPHA:798
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Abnormality of the liver, Annular pancreas, Hepatic st... 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.

Order Mouse and ES Cells

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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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