Gene Summary

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

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
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, Hypoplasia of the corpus callosum, Microcephaly, Broad-based gait ORPHA:477673
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary 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
Dystonia, Lethargy, Decreased methylcobalamin, Spastic ataxia, Decreased methionine synthase acti... OMIM:277410
Essential Fructosuria
Abnormal enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Impairment of fructose meta... ORPHA:2056
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Decreased methylcobalamin, Cystathioninuria, Decreased methionine synthase activity, Ce... OMIM:277400
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus, Ataxia ORPHA:31
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, ... ORPHA:309854
Tyrosinemia Type 2
Microcephaly, Abnormality of amino acid metabolism, Ataxia ORPHA:28378
Methylmalonic Aciduria, Cblb Type
Lethargy, Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase... OMIM:251110
Congenital Disorder Of Glycosylation, Type Iw
Microcephaly, Abnormal glycosylation OMIM:615596
Methylmalonic Aciduria, Cbla Type
Lethargy, Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase... OMIM:251100
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Abnormality of amino acid metabolism, Hydrocephalus, Ataxia ORPHA:220295
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Small p... OMIM:617395
Friedreich Ataxia
Limb ataxia, Gait ataxia, Ataxia, Decreased pyruvate carboxylase activity OMIM:229300
Mitochondrial Dna-Associated Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Dystonia, Gait ataxia, Abnormality of Krebs cycle met... ORPHA:255210
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
Galactose Epimerase Deficiency
Impairment of galactose metabolism, Jaundice, Aminoaciduria ORPHA:79238
Classic Homocystinuria
Abnormality of amino acid metabolism, Elevated hepatic transaminase ORPHA:394
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Abnormal protein N-linked glycosylation, Elevated circulating alka... OMIM:616829
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Galactose Mutarotase Deficiency
Impairment of galactose metabolism, Abnormal enzyme/coenzyme activity, Decreased liver function ORPHA:570422
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Abnormal glycosylation, Elevated hepatic transa... ORPHA:356961
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Abnormal glycosylation, Elevated alkaline phosphatase of bone orig... OMIM:616828
Cog4-Cdg
Type II transferrin isoform profile, Fatal liver failure in infancy, Elevated hepatic transaminas... ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Decreased liver function, Abnormal glycosylation OMIM:615597
Friedreich Ataxia 2
Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Steppage gait, Ataxia, Decreased pyruvate carboxylase activity OMIM:302900
Friedreich Ataxia And Congenital Glaucoma
Ataxia, Decreased pyruvate carboxylase activity OMIM:229310
Aspartylglucosaminuria
Abnormality of amino acid metabolism, Aspartylglucosaminuria ORPHA:93
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:567983
Stt3B-Cdg
Microcephaly, Abnormal glycosylation ORPHA:370924
Stt3A-Cdg
Microcephaly, Abnormal glycosylation ORPHA:370921
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Elevated circulating alkaline phosphatase concentration, Gene... OMIM:227810
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Elevated circulating alanine aminotransferase concentration, Elevated ... ORPHA:2088
Chylomicron Retention Disease
Abnormality of vitamin metabolism, Elevated hepatic transaminase ORPHA:71
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait OMIM:616457
Fructose Intolerance, Hereditary
Lethargy, Elevated hepatic transaminase, Transient aminoaciduria, Jaundice, Fructose intolerance OMIM:229600
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:79408
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Microcephaly, Broad-based gait ORPHA:477673
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary 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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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MGI Allele Allele Type Produced
Gpt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpt2tm41929(L1L2_Bact_P) Targeting vectors

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