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
Atrial septal defect, Abnormal heart valve morphology, Seizure, Abnormality of the gallbladder, I... 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 enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Impairment of fructose meta... ORPHA:2056
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance, Seizure, Hypoglycemia OMIM:229500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Low levels of vitamin E, Abnormality of am... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iw
Seizure, Abnormal glycosylation OMIM:615596
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Seizure, Elevated hepatic transaminase OMIM:189800
Tyrosinemia Type 2
Seizure, Abnormality of amino acid metabolism ORPHA:28378
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Abnormal glycosylation, Elevated alkaline phosphatase o... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Abnormal protein N-linked glycosylation, Hepatic steatosis, Elevat... OMIM:616829
Classic Homocystinuria
Seizure, Abnormality of amino acid metabolism, Elevated hepatic transaminase, Hepatomegaly ORPHA:394
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function, Impairment of galactose metabolism, Abnormal... ORPHA:570422
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Elevated hepatic transaminase, Hypoglycemia OMIM:306000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Seizure, Decrease... OMIM:617093
Galactose Epimerase Deficiency
Impairment of galactose metabolism, Jaundice, Growth delay, Hepatomegaly ORPHA:79238
Congenital Disorder Of Glycosylation, Type Iiq
Seizure, Abnormal glycosylation, Elevated hepatic transaminase OMIM:617395
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypoglycemia, Postnatal growth retardation, Hepatomegaly, Increase... OMIM:232700
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism, Short stature ORPHA:220295
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Decreased liver function, Seizure, Abnormal glycosylation OMIM:615597
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Seizure, Hepatomegaly, Decreased liver function, Hyp... OMIM:246900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Growth delay, Elevated circulating alanine amin... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iir
Type II transferrin isoform profile, Micronodular cirrhosis, Elevated hepatic transaminase, Hepat... OMIM:301045
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Impaired gluconeoge... OMIM:212140
Cog4-Cdg
Type II transferrin isoform profile, Fatal liver failure in infancy, Cirrhosis, Elevated hepatic ... ORPHA:263501
Aspartylglucosaminuria
Seizure, Abnormality of amino acid metabolism, Umbilical hernia, Hepatomegaly ORPHA:93
Stt3B-Cdg
Intrauterine growth retardation, Seizure, Abnormal glycosylation ORPHA:370924
Slc35A2-Cdg
Abnormal glycosylation, Elevated hepatic transaminase, Abnormal heart morphology, Decreased sialy... ORPHA:356961
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Seiz... ORPHA:2089
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Seizure, Jaundice, Cardiomyop... OMIM:616483
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Abnormality of vitamin D metabolism, Hepatic steatosis, Growth del... ORPHA:541423
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Type I transferrin isoform profile, Intrahepatic cholestasis, Hepa... OMIM:614921
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylcobalamin, Decreased methionine synthase activity, Seizure, Methylmalonic acidemi... OMIM:277410
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycem... ORPHA:228305
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Eleva... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure OMIM:617049
Stt3A-Cdg
Seizure, Abnormal glycosylation ORPHA:370921
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Prolonged neonatal... OMIM:214950
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Bile ... OMIM:613027
Chylomicron Retention Disease
Abnormality of vitamin metabolism, Elevated hepatic transaminase, Hepatic steatosis, Growth delay... ORPHA:71
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Elevated circulating alkaline phosphatase concentration, Glyc... OMIM:227810
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Biliary cirrhosis, Sclerosing cholangitis, Cholestasis,... OMIM:617394
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Primary Sclerosing Cholangitis
Low levels of vitamin E, Jaundice, Cirrhosis, Low levels of vitamin D, Acute hepatic failure, Ele... ORPHA:171
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Methylmalonic Aciduria, Cbla Type
Seizure, Hepatomegaly, Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylmalon... OMIM:251100
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Developmental And Epileptic Encephalopathy 50
Seizure, Status epilepticus, Abnormal glycosylation OMIM:616457
Fructose Intolerance, Hereditary
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Glycosuria, Seizure, J... OMIM:229600
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizur... ORPHA:255210
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism, Growth delay, Cholestasis ORPHA:95427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Low levels of vitamin D, Growth delay, Delayed puberty, Dilate... ORPHA:79408
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal heart valve morphology, Seizure, Abnormality of the gallbladder, I... 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.

Order Mouse and ES Cells

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter