Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
adenylate kinase 1
Synonyms:
Ak-1,  B430205N08Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ak1 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 Ak1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
OMIM:612631

The table below shows human diseases predicted to be associated to Ak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity
Decreased resting energy expenditure OMIM:601665
Friedreich Ataxia
Abnormal echocardiogram, Decreased pyruvate carboxylase activity, Congestive heart failure, Diabe... OMIM:229300
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Decreased pyruvate carboxylase activity, Concentric hypertrophic cardiom... OMIM:229310
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... OMIM:601992
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Hepatic failure, Dilated c... ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... OMIM:302900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Corneal neovascularization, Decreased resting energy expenditure ORPHA:404454
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
OMIM:612631

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 Ak1

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 Ak1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Adenylate kinase 1 deficiency disrupts mouse sperm motility under conditions of energy stress†. Biology of reproduction (October 2020) Ak1tm1(KOMP)Wtsi 32744313

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ak1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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