Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
leucine zipper-EF-hand containing transmembrane protein 1
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Letm1 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 Letm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the gallbladder, Seizure... ORPHA:280

The table below shows human diseases predicted to be associated to Letm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal enzyme/coenzyme activity, Impairment of fructose meta... ORPHA:2056
Fructose And Galactose Intolerance
Galactose intolerance, Hypoglycemia, Seizure, Fructose intolerance OMIM:229500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Low levels of vitamin E, Abnormality of amino acid metaboli... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation, Seizure OMIM:615596
Tyrosinemia Type 2
Abnormality of amino acid metabolism, Seizure ORPHA:28378
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated... OMIM:616828
Classic Homocystinuria
Elevated hepatic transaminase, Abnormality of amino acid metabolism, Hepatomegaly, Seizure ORPHA:394
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Cholestasis, Impairmen... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Abnormal protein N-linked glycosylation, Elevated circulating alkaline ... OMIM:616829
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Elevated hepatic transaminase, Seizure, Postnatal growth retardation, H... OMIM:617093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Jaundice, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Abnormal glycosylation, Seizure OMIM:617395
Galactose Epimerase Deficiency
Growth delay, Hepatomegaly, Jaundice, Impairment of galactose metabolism ORPHA:79238
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic transaminase, Po... OMIM:232700
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism, Short stature ORPHA:220295
Dk1-Cdg
Type I transferrin isoform profile, Abnormal enzyme/coenzyme activity, Short stature, Infantile s... ORPHA:91131
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... OMIM:600649
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... ORPHA:567983
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... ORPHA:2088
Aspartylglucosaminuria
Abnormality of amino acid metabolism, Hepatomegaly, Umbilical hernia, Seizure ORPHA:93
Stt3B-Cdg
Intrauterine growth retardation, Abnormal glycosylation, Seizure ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Abnormal glycosylation, Seizure OMIM:615597
Slc35A2-Cdg
Abnormal heart morphology, Short stature, Infantile spasms, Tetralogy of Fallot, Decreased sialyl... ORPHA:356961
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Seizure, Jaundice, Cardiomyop... OMIM:616483
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Abno... ORPHA:79303
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tra... ORPHA:2089
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Seizure, Abnormal metabolism ORPHA:77296
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Type II diabetes mellitus, Cholestatic liver disease, Abnor... ORPHA:79095
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated h... ORPHA:541423
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Seizure, Decreased methylmalonyl-CoA mutase ... OMIM:277410
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Congenital Disorder Of Glycosylation, Type It
Abnormal isoelectric focusing of serum transferrin, Hepatomegaly, Short stature, Increased hepati... OMIM:614921
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic fai... ORPHA:71212
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis... OMIM:613812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Sclerosing cholangitis, Elevated... ORPHA:69663
Gallbladder Disease 1
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Cholestasis, Cholecystit... OMIM:600803
Stt3A-Cdg
Abnormal glycosylation, Seizure ORPHA:370921
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Growth delay, Abnormality... ORPHA:71
Fanconi-Bickel Syndrome
Glycosuria, Elevated circulating alkaline phosphatase concentration, Impairment of galactose meta... OMIM:227810
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, ... ORPHA:30391
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Developmental And Epileptic Encephalopathy 50
Status epilepticus, Abnormal glycosylation, Seizure OMIM:616457
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Generalized myoclonic seizure, Hepatic failure, Abnormality of Krebs cycle metaboli... ORPHA:255210
Fructose Intolerance, Hereditary
Hepatomegaly, Cirrhosis, Glycosuria, Fructose intolerance, Hypoglycemia, Elevated hepatic transam... OMIM:229600
Secondary Short Bowel Syndrome
Growth delay, Abnormality of vitamin metabolism, Cholestasis ORPHA:95427
Primary Intestinal Lymphangiectasia
Growth delay, Abnormality of vitamin metabolism, Pericardial effusion, Low levels of vitamin D ORPHA:90362
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Delayed puberty, Growth delay, Abnormality of vitamin metabolism, Low lev... ORPHA:79408
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the gallbladder, Seizure... ORPHA:280

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 Letm1

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 Letm1.

No publications found that use IMPC mice or data for Letm1.

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