Gene Summary

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

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, 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 methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277410
Essential Fructosuria
Impairment of fructose metabolism, Abnormal erythrocyte enzyme concentration or activity, Abnorma... ORPHA:2056
Oxoglutaric Aciduria
Hydrocephalus, Ataxia, Abnormality of Krebs cycle metabolism ORPHA:31
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Jaundice, Elevated circulating hepatic transaminase concentration, Difficulty walki... ORPHA:309854
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277400
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Abnormal circulating vitamin... OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Abnormal circulating vitamin... OMIM:251100
Friedreich Ataxia
Limb ataxia, Ataxia, Decreased pyruvate carboxylase activity, Gait ataxia OMIM:229300
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Agenesis of corpus callosum, Ami... OMIM:606812
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia, Abnormality of amino acid metabolism 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, Ataxia, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormality of amino acid metabolism ORPHA:394
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Impairment of galactose metabolism ORPHA:79238
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Galactose Mutarotase Deficiency
Decreased liver function, Impairment of galactose metabolism, Abnormal circulating enzyme concent... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... OMIM:616828
Slc35A2-Cdg
Decreased galactosylation of N-linked protein glycosylation, Elevated circulating hepatic transam... ORPHA:356961
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
Friedreich Ataxia 2
Ataxia, Decreased pyruvate carboxylase activity OMIM:601992
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation, Elevated circulating hepatic transaminase concentration OMIM:617395
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Elevated circulating alanine aminotransferase concentration, Abnormality of vitamin met... ORPHA:79302
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:567983
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Generalized aminoaciduria, Elevated circulating alanine aminotransferas... OMIM:227810
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Galactose intolerance, Elevated circulating alanine aminotransferase c... 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
Fructose intolerance, Jaundice, Elevated circulating hepatic transaminase concentration, Reduced ... OMIM:229600
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait 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.

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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