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Gene: Tmlhe MGI:2180203

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Gene Summary

Name:
trimethyllysine hydroxylase, epsilon
Synonyms:
Bbox2,  TMLH,  D430017M14Rik

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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
abnormal gait Tmlheem1(IMPC)Bay HEM Early adult 1.11×10-05
abnormal hindlimb morphology Tmlheem1(IMPC)Bay HEM Early adult 5.34×10-05
abnormal snout morphology Tmlheem1(IMPC)Bay HEM Early adult 5.34×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, X-Linked 6
OMIM:300872

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Scleroderma, Familial Progressive
Telangiectasia, Chromosome breakage, Abnormality of chromosome stability, Calcinosis OMIM:181750
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Autism, Susceptibility To, X-Linked 6
OMIM:300872

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 Tmlhe

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 Tmlhe.

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

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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
Tmlheem1(IMPC)Bay Intra-exon deletion Mice

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