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Gene: Lipt1 MGI:3645211

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Gene Summary

Name:
lipoyltransferase 1
Synonyms:
EG623661

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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
preweaning lethality, complete penetrance Lipt1em1(IMPC)Bay HOM   Early adult 0.00
abnormal retina blood vessel morphology Lipt1em1(IMPC)Bay HET   Early adult 3.98×10-05
abnormal spleen morphology Lipt1em1(IMPC)Bay HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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

9 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Human diseases caused by Lipt1 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.

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

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 Lipt1

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 Lipt1.

No publications found that use IMPC mice or data for Lipt1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lipt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lipt1em1(IMPC)Bay Exon Deletion Mice
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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