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Gene: Twnk MGI:2137410

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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:
twinkle mtDNA helicase
Synonyms:
D19Ertd626e,  Peo1,  Twinl,  twinkle

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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 Twnk 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 Twnk by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Perrault Syndrome 5
OMIM:616138
Autosomal Dominant Progressive External Ophthalmoplegia
ORPHA:254892
Infantile-Onset Spinocerebellar Ataxia
ORPHA:1186
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
ORPHA:70595
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
OMIM:271245
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
OMIM:609286

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Perrault Syndrome 5
OMIM:616138
Autosomal Dominant Progressive External Ophthalmoplegia
ORPHA:254892
Infantile-Onset Spinocerebellar Ataxia
ORPHA:1186
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
ORPHA:70595
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
OMIM:271245
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
OMIM:609286

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 Twnk

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 Twnk.

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

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
Twnktm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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