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Gene: Mrs2 MGI:2685748

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Gene Summary

Name:
MRS2 magnesium transporter
Synonyms:
LOC380836,  Mrs2l

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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
decreased locomotor activity Mrs2em1(IMPC)Bay HOM Early adult 1.86×10-05

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.

Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Mrs2 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 Mrs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling ORPHA:397744
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepat... OMIM:606812
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Sarcoidosis
Hepatomegaly, Maculopapular exanthema, Portal hypertension, Erythema nodosum, Bronchiectasis, Uve... ORPHA:797
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasi... OMIM:619991
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros... ORPHA:79318

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 Mrs2

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 Mrs2.

No publications found that use IMPC mice or data for Mrs2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mrs2em1(IMPC)Bay Exon Deletion Mice
Mrs2tm38867(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrs2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Mrs2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mrs2tm355054(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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