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Genes Phenotypes Help, News, Blog

Gene: Timmdc1 MGI:1922139

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Gene Summary

Name:
translocase of inner mitochondrial membrane domain containing 1
Synonyms:
4930455C21Rik,  2810021C21Rik

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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
preweaning lethality, complete penetrance Timmdc1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal coat appearance Timmdc1tm1b(EUCOMM)Wtsi HET Early adult 6.82×10-06
increased circulating alanine transaminase level Timmdc1tm1b(EUCOMM)Wtsi HET Early adult 8.56×10-10

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Timmdc1tm1b(EUCOMM)Wtsi
WT, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
WT, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
WT, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 84 images

Timmdc1tm1b(EUCOMM)Wtsi
head, asymmetric snout, abnormal snout morphology, HET, Female, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
hindlimb, polydactylous syndactyly, WT, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
hindlimb, polydactylous syndactyly, WT, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
abnormal snout morphology, head, asymmetric snout, HET, Female, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
abnormal hair texture, greasy coat, HET, Male, WTSI

View all 12 images

Timmdc1tm1b(EUCOMM)Wtsi
cataract, HET, Male, WTSI
Timmdc1tm1b(EUCOMM)Wtsi
cataract, HET, Male, WTSI

Human diseases caused by Timmdc1 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 Timmdc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Complex I Deficiency
Increased serum pyruvate ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 31
OMIM:618251

The table below shows human diseases predicted to be associated to Timmdc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Isolated Complex I Deficiency
Increased serum pyruvate ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 31
OMIM:618251

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 Timmdc1

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 Timmdc1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Timmdc1tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Timmdc1tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Timmdc1tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Timmdc1tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Timmdc1tm1b(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Timmdc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Timmdc1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Timmdc1tm46124(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Timmdc1tm46124(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Timmdc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Timmdc1tm46124(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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