banner
Genes Phenotypes Help, News, Blog

Gene: Gpt2 MGI:1915391

Log in to follow

Gene Summary

Name:
glutamic pyruvate transaminase (alanine aminotransferase) 2
Synonyms:
4631422C05Rik,  ALT2

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Gpt2Gpt2 HET   Early adult 7.06×10-07

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 Gpt2 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 Gpt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Difficulty walking, Broad-based gait ORPHA:477673
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
OMIM:616281

The table below shows human diseases predicted to be associated to Gpt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Decreased methionine synthase activity, M... OMIM:277410
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia, Hydrocephalus ORPHA:31
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Decreased methionine synthase activity, M... OMIM:277400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Low levels of vitamin E, Gait disturbance, Difficulty walking, Elevated hepatic transam... ORPHA:309854
Methylmalonic Aciduria, Cblb Type
Decreased adenosylcobalamin, Lethargy, Decreased methylmalonyl-CoA mutase activity, Methylmalonic... OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased adenosylcobalamin, Abnormal vitamin B12 level, Methylmalonic acidemia, Lethargy, Decrea... OMIM:251100
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Limb ataxia, Gait ataxia, Ataxia OMIM:229300
Fumarase Deficiency
Intrahepatic cholestasis, Aminoaciduria, Decreased fumarate hydratase activity, Hepatic failure, ... OMIM:606812
Tyrosinemia Type 2
Abnormality of amino acid metabolism, Ataxia ORPHA:28378
Essential Fructosuria
Impairment of fructose metabolism, Abnormal erythrocyte enzyme level, Abnormal circulating enzyme... ORPHA:2056
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism, Ataxia, Hydrocephalus ORPHA:220295
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Hepatic failure, Abnormality of Krebs cycle metabolism, Ataxia ORPHA:255210
Classic Homocystinuria
Elevated hepatic transaminase, Abnormality of amino acid metabolism ORPHA:394
Galactose Epimerase Deficiency
Impairment of galactose metabolism, Jaundice, Aminoaciduria ORPHA:79238
Galactose Mutarotase Deficiency
Impairment of galactose metabolism, Abnormal circulating enzyme concentration or activity, Decrea... ORPHA:570422
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Elevated hepatic transaminase, Prolonged neonatal j... OMIM:616828
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
Slc35A2-Cdg
Decreased sialylation of O-linked protein glycosylation, Inability to walk, Elevated hepatic tran... ORPHA:356961
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Ataxia OMIM:601992
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Abnormal glycosylation OMIM:617395
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... ORPHA:79302
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated hepatic transaminase, Abnormal metabolism, Elevated circulating alkaline phosp... ORPHA:567983
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Intrahepatic cholestasis, Elevated circulating aspartate amin... OMIM:227810
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... ORPHA:2088
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Abnormal glycosylation OMIM:616457
Fructose Intolerance, Hereditary
Jaundice, Transient aminoaciduria, Elevated hepatic transaminase, Fructose intolerance, Lethargy OMIM:229600
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Difficulty walking, Broad-based gait ORPHA:477673
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
OMIM:616281

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 Gpt2

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 Gpt2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus. Neurobiology of disease (July 2022) Gpt2tm1a(KOMP)Wtsi 35908744
Silencing alanine transaminase 2 in diabetic liver attenuates hyperglycemia by reducing gluconeogenesis from amino acids. Cell reports (April 2022) Gpt2tm1a(KOMP)Wtsi PMC9121396
Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2. Cell reports (February 2022) Gpt2tm1a(KOMP)Wtsi PMC8889437
Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo. Human molecular genetics (February 2022) Gpt2tm1c(KOMP)Wtsi Gpt2tm1a(KOMP)Wtsi 34519342
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proceedings of the National Academy of Sciences of the United States of America (September 2016) Gpt2tm1a(KOMP)Wtsi PMC5035873

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
Gpt2tm41929(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gpt2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gpt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter