Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 |
---|---|---|---|---|---|---|
pallor | Rsu1em1(IMPC)J | HOM | E18.5 | 0.00 | ||
abnormal embryo size | Rsu1em1(IMPC)J | HOM | E18.5 | 0.00 | ||
preweaning lethality, complete penetrance | Rsu1em1(IMPC)J | HOM | Early adult | 0.00 | ||
increased total body fat amount | Rsu1em1(IMPC)J | HET | Early adult | 4.24×10-05 |
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.
The table below shows human diseases predicted to be associated to Rsu1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor | OMIM:609053 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Beta-Thalassemia Major | Pallor, Skin ulcer | ORPHA:231214 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Incontinentia Pigmenti | Erythema, Pallor | OMIM:308300 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor | OMIM:227645 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Pallor | OMIM:105650 | |
Esophageal Atresia | Pallor | ORPHA:1199 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Fanconi Anemia, Complementation Group E | Anemic pallor | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Anemic pallor | OMIM:227650 | |
Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
Tsh-Secreting Pituitary Adenoma | Pallor | ORPHA:91347 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Diamond-Blackfan Anemia | Pallor | ORPHA:124 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Fanconi Anemia, Complementation Group D2 | Anemic pallor | OMIM:227646 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Rsu1em1(IMPC)J | Exon Deletion | Mice |
Rsu1tm2a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Rsu1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Rsu1tm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Rsu1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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