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Gene: Mtrf1l MGI:1918830

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Gene Summary

Name:
mitochondrial translational release factor 1-like
Synonyms:
9130004K12Rik

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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
increased circulating free fatty acids level Mtrf1ltm1a(KOMP)Wtsi HET Early adult 1.23×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 66.67% (2 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 33.33% (1 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A heterozygote 66.67% (2 of 3)
Lung N/A heterozygote 66.67% (2 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 66.67% (2 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 33.33% (1 of 3)
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 33.33% (1 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 66.67% (2 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 66.67% (2 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 66.67% (2 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Mtrf1ltm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
body, WT, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
head, WT, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
forearm, WT, Female, WTSI

View all 102 images

Mtrf1ltm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Mtrf1ltm1a(KOMP)Wtsi
HET, Male, WTSI
Mtrf1ltm1a(KOMP)Wtsi
abnormal paw morphology, HET, Male, WTSI

Human diseases caused by Mtrf1l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mtrf1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768

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 Mtrf1l

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 Mtrf1l.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mtrf1ltm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mtrf1ltm1a(KOMP)Wtsi PMC6459510

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.

MGI Allele Allele Type Produced
Mtrf1ltm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mtrf1ltm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mtrf1ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mtrf1ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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