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 |
---|---|---|---|---|---|---|
abnormal retina blood vessel morphology | Lipt1em1(IMPC)Bay | HET | Early adult | 1.05×10-05 | ||
abnormal spleen morphology | Lipt1em1(IMPC)Bay | HET | Early adult | 0.00 | ||
preweaning lethality, complete penetrance | Lipt1em1(IMPC)Bay | HOM | Early adult | 0.00 |
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 associated to Lipt1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Lipoyltransferase 1 Deficiency | OMIM:616299 |
The table below shows human diseases predicted to be associated to Lipt1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cephalin Lipidosis | Abnormality of the spleen | OMIM:212800 | |
Tuftsin Deficiency | Abnormality of the spleen | OMIM:191150 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Central Retinal Vein Occlusion | Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... | ORPHA:411527 | |
Exudative Vitreoretinopathy 2, X-Linked | Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... | OMIM:305390 | |
Vitreoretinopathy, Neovascular Inflammatory | Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... | OMIM:193235 | |
Exudative Vitreoretinopathy 1 | Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... | OMIM:133780 | |
Ceroid storage disease | Abnormality of the spleen | OMIM:214200 | |
Familial Exudative Vitreoretinopathy | Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... | ORPHA:891 | |
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 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Eales Disease | Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... | ORPHA:40923 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Vitreoretinochoroidopathy | Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... | OMIM:193220 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
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 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations | Normocytic anemia, Retinal cotton wool spot, Nodular regenerative hyperplasia of liver, Abnormal ... | ORPHA:247691 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
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 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay | Retinal neovascularization | OMIM:619074 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
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 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
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 | |
Esophageal Atresia | Pallor | ORPHA:1199 | |
Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Pallor | OMIM:105650 | |
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 | |
Lipoyltransferase 1 Deficiency | OMIM:616299 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Lipt1em1(IMPC)Bay | Exon Deletion | Mice |
Lipt1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Lipt1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Lipt1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
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