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 prepulse inhibition Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 8.72×10-05
decreased circulating alkaline phosphatase level Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 4.34×10-05
increased lean body mass Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 4.36×10-06
increased total body fat amount Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 7.54×10-07
decreased circulating free fatty acids level Mtarc2tm2a(EUCOMM)Hmgu HOM   Early adult 9.70×10-06
decreased circulating amylase level Mtarc2tm2a(EUCOMM)Hmgu HOM Early adult 9.06×10-07
increased startle reflex Mtarc2tm2a(EUCOMM)Hmgu HOM Early adult 6.35×10-10

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
Mandibuloacral Dysplasia
Contractures of the large joints, Increased circulating free fatty acid level, Increased adipose ... ORPHA:2457
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level, Large for gestational age, Truncal obesity ORPHA:293964
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:616881
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Elevated circulating crea... ORPHA:26793
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:617864
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... OMIM:253800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Elbow flexion contracture, Ar... OMIM:617301
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Tremor, Laryngeal dystonia, Dy... ORPHA:845
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Exaggerated startle response, Contractures of the large joints, Dystonia ORPHA:521426
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Abnormal odontoid tissue morphology ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Contractures of the large joints OMIM:617527
Sandhoff Disease
Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia, Uterine prolapse 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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