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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 Data Collections

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 pharyngeal arch morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Got2em1(IMPC)Mbp HOM E9.5 0.00
small spleen Got2em1(IMPC)Mbp HET Early adult 0.00
abnormal visceral yolk sac morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Got2em1(IMPC)Mbp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Got2em1(IMPC)Mbp HOM   E15.5 0.00
abnormal blood vessel morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitreous body morphology Got2em1(IMPC)Mbp HET Early adult 8.70×10-05
embryonic growth retardation Got2em1(IMPC)Mbp HET E15.5 0.00
abnormal hindbrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Got2em1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Got2em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Got2em1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

Gross Morphology Embryo E9.5

Images

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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 Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 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
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Verheij Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short neck, Ven... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Pulmonic stenosis, Abnormal mitral valve morphology, Short stature ORPHA:1131
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Increased nuchal translu... ORPHA:453499
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Tetralogy of Fallot, Arrhythm... ORPHA:2162
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Tricuspid regurgita... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retard... ORPHA:261330
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Branchial cyst ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic... ORPHA:352665
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Short stature, Mitral stenosis, Spinal dysraphism, Atrial septal defect, H... OMIM:617660
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Spina bifida occulta, Truncus arterio... ORPHA:508488
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Short stature, Natal tooth, Right ventricu... OMIM:620186
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Microphthalmia/Coloboma 12
Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:120200
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Cystic hyg... ORPHA:63259
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... OMIM:164210
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Intrauterine growth reta... OMIM:113620
Witteveen-Kolk Syndrome
Growth delay, Short stature, Intracranial hemorrhage, Intrauterine growth retardation, Branchial ... OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morphology, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morphology, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morphology, Abnorm... ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morphology, Abnorm... ORPHA:220386
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Atelis Syndrome 2
Thrombocytopenia, Anemia, Remnants of the hyaloid vascular system OMIM:620185
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... ORPHA:798
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage OMIM:609049
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Norrie Disease
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
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
Got2tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Got2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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