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Gene: Got2 MGI:95792

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Gene Summary

Name:
glutamatic-oxaloacetic transaminase 2, mitochondrial
Synonyms:
mitochondrial aspartate aminotransferase,  FABP-pm,  Kyat4,  mAspAT,  plasma membrane fatty acid binding protein

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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 midbrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Got2em1(IMPC)Mbp HET E15.5 0.00
hemorrhage Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal hindbrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
small spleen Got2em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Got2em1(IMPC)Mbp HOM   E15.5 0.00
abnormal embryo turning Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Got2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Got2em1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

32 Images

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Human diseases caused by Got2 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 Got2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 82
Short stature OMIM:618721

The table below shows human diseases predicted to be associated to Got2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Hydrocephalus, Patent duct... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... ORPHA:261330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Hypertension ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... OMIM:617660
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Atrial septal defect, Pulmonary arterial hypertension... OMIM:620186
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Bran... OMIM:164210
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... OMIM:613406
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:220386
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... ORPHA:798
Developmental And Epileptic Encephalopathy 82
Short stature OMIM:618721

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 Got2

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 Got2.

No publications found that use IMPC mice or data for Got2.

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
Got2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Got2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Got2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Got2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Got2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Got2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Got2tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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