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Gene: Letm1 MGI:1932557

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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

Order Alleles

IMPC Data Collections

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

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.

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 heart valve morphology, Abnormality of the gallbladder, Seizure, Abnormal cardiac septum... ORPHA:280
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Seizure OMIM:620089

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fructose And Galactose Intolerance
Fructose intolerance, Seizure, Galactose intolerance, Hypoglycemia OMIM:229500
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Decreased circulating... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation, Seizure OMIM:615596
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Intrauterine growth retardation, Seizure OMIM:189800
Tyrosinemia Type 2
Seizure, Abnormality of amino acid metabolism ORPHA:28378
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Abnormal glycosylation, Hepatomegaly, Elevated alkaline phosphatas... OMIM:616828
Classic Homocystinuria
Elevated hepatic transaminase, Seizure, Abnormality of amino acid metabolism, Hepatomegaly ORPHA:394
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Galactose Mutarotase Deficiency
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Impairment of galactose meta... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alkaline phosphatase conce... OMIM:616829
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Galactose Epimerase Deficiency
Growth delay, Hepatomegaly, Jaundice, Impairment of galactose metabolism ORPHA:79238
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Abnormality of amino acid metabolism ORPHA:220295
Dk1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Bilateral t... ORPHA:91131
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Seizure, Macro... OMIM:600649
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Abnormal glycosylation, Generalized tonic seizure OMIM:617395
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ... ORPHA:567983
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Aspartylglucosaminuria
Umbilical hernia, Seizure, Abnormality of amino acid metabolism, Hepatomegaly ORPHA:93
Slc35A2-Cdg
Elevated hepatic transaminase, Abnormal glycosylation, Short stature, Infantile spasms, Abnormal ... ORPHA:356961
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy, Sei... OMIM:616483
Stt3B-Cdg
Abnormal glycosylation, Intrauterine growth retardation, Seizure ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation, Intrauterine growth retardation, Seizure OMIM:615597
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Seizure, Glycosuria, Postpran... ORPHA:2089
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Decreased circulating calcifed... OMIM:214950
Morgagni-Stewart-Morel Syndrome
Seizure, Diabetes mellitus, Abnormal metabolism ORPHA:77296
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Abnormality of vitamin D metabolis... ORPHA:541423
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... OMIM:227810
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Growth d... OMIM:613027
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... ORPHA:69663
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Stt3A-Cdg
Abnormal glycosylation, Seizure ORPHA:370921
Chylomicron Retention Disease
Elevated hepatic transaminase, Growth delay, Abnormality of vitamin metabolism, Increased hepatoc... ORPHA:71
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Seizure, Cirrhosis, Glycosur... OMIM:229600
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Abnormality of Krebs cycle metabo... ORPHA:255210
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Seizure, Status epilepticus OMIM:616457
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Abnormality of the gallbladder, Seizure, Abnormal cardiac septum... ORPHA:280
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Seizure OMIM:620089

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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