Gene Summary

Name:
mitochondrial amidoxime reducing component 2
Synonyms:
Marc2,  Mosc2,  2810484M10Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating free fatty acids level Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 9.45×10-06
increased startle reflex Mtarc2tm2a(EUCOMM)Hmgu HOM Early adult 6.35×10-10
increased total body fat amount Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 4.29×10-06
decreased circulating alkaline phosphatase level Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 8.33×10-05

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.

Phenotype associated images not available

Human diseases caused by Mtarc2 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 Mtarc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, Increased adi... ORPHA:2457
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Hyperekplexia 1
Exaggerated startle response, Umbilical hernia, Inguinal hernia OMIM:149400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Hyperekplexia 2
Exaggerated startle response OMIM:614619
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine kinase, Increased ci... ORPHA:71212
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Arthrogryposis multiplex congenita, Exaggerated startle response, Flexion contra... OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response, Flexion contrac... OMIM:253800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Tay-Sachs Disease
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response ORPHA:845
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Sandhoff Disease
Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Exaggerated startle response ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Uterine prolapse, Decreased serum iron ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Mtarc2

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 Mtarc2.

No publications found that use IMPC mice or data for Mtarc2.

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MGI Allele Allele Type Produced
Mtarc2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mtarc2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mtarc2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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