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Gene: Gpt2 MGI:1915391

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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
Homocystinuria, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activi... OMIM:277410
Essential Fructosuria
Abnormal erythrocyte enzyme concentration or activity, Abnormal circulating enzyme concentration ... ORPHA:2056
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus, Ataxia ORPHA:31
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of amino acid metabolism, Elevated circulating hepatic transaminase concentration, Di... ORPHA:309854
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Homocystinuria, Decreased methylmalonyl-CoA mutase activity, Cystathioninuria, Abnormal circulati... OMIM:277400
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Abnormal circulating vitamin B12 concentration, Decr... OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Abnormal circulating vitamin B12 concentration, Decr... OMIM:251100
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Limb ataxia, Gait ataxia, Ataxia OMIM:229300
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Agenesis of corpus callosum, Decreased ... OMIM:606812
Tyrosinemia Type 2
Abnormality of amino acid metabolism, Ataxia ORPHA:28378
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism, Hydrocephalus, Ataxia 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
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Abnormality of amino acid metabolism, Elevated circulating hepatic transaminase concentration ORPHA:394
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Impairment of galactose metabolism ORPHA:79238
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Galactose Mutarotase Deficiency
Abnormal circulating enzyme concentration or activity, Impairment of galactose metabolism, Decrea... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal glycosylation,... OMIM:616828
Slc35A2-Cdg
Elevated circulating hepatic transaminase concentration, Decreased sialylation of O-linked protei... ORPHA:356961
Aspartylglucosaminuria
Abnormality of amino acid metabolism, Aspartylglucosaminuria ORPHA:93
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Ataxia OMIM:601992
Congenital Disorder Of Glycosylation, Type Iiq
Elevated circulating hepatic transaminase concentration, Abnormal glycosylation OMIM:617395
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... ORPHA:79302
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Generalized aminoaciduria, El... OMIM:227810
Fanconi-Bickel Syndrome
Galactose intolerance, Generalized aminoaciduria, Hepatic failure, Elevated circulating aspartate... ORPHA:2088
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Transient aminoaciduria, Lethargy, Reduc... OMIM:229600
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Abnormal glycosylation OMIM:616457
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 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Effects of hepatic mitochondrial pyruvate carrier deficiency on de novo lipogenesis and gluconeogenesis in mice. iScience (October 2023) Gpt2tm1a(KOMP)Wtsi PMC10628847
Hepatic pyruvate and alanine metabolism are critical and complementary for maintenance of antioxidant capacity and resistance to oxidative insult. Molecular metabolism (September 2023) Gpt2tm1c(KOMP)Wtsi PMC10561123
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

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