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Gene: Slc1a4 MGI:2135601

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Gene Summary

Name:
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
Synonyms:
ASCT1

Order Alleles

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
improved glucose tolerance Slc1a4tm1e(KOMP)Wtsi HOM   Early adult 5.28×10-06
decreased circulating serum albumin level Slc1a4tm1e(KOMP)Wtsi HOM Early adult 3.38×10-05
increased red blood cell distribution width Slc1a4tm1e(KOMP)Wtsi HOM Early adult 7.02×10-06

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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 Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Histopathology

Images

4 Images

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Legacy Phenotype Associated Images
Slc1a4tm1e(KOMP)Wtsi
HOM, Male, WTSI
Slc1a4tm1e(KOMP)Wtsi
HOM, Male, WTSI
Slc1a4tm1e(KOMP)Wtsi
HOM, Male, WTSI
Slc1a4tm1e(KOMP)Wtsi
HOM, Male, WTSI
Slc1a4tm1e(KOMP)Wtsi
HOM, Male, WTSI

View all 70 images

Slc1a4tm1e(KOMP)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Slc1a4tm1e(KOMP)Wtsi
right eye, HOM, Female, WTSI
Slc1a4tm1e(KOMP)Wtsi
corneal opacity, HOM, Female, WTSI

Human diseases caused by Slc1a4 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 Slc1a4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Hypoplasia of the corpus callosum, Irritability, Microcephaly, Progressive micr... OMIM:616657
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Secondary microcephaly, Primary microcephaly, Hypoplasia of the corpus callosum, Irritability ORPHA:447997

The table below shows human diseases predicted to be associated to Slc1a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo... OMIM:604213
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Corpus Callosum, Agenesis Of
Microcephaly, Macrocephaly, Agenesis of corpus callosum OMIM:217990
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Primary microcephaly, Polymicrogyria ORPHA:171703
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Decreased head circumference, Abnormal cerebral white matter morpholo... ORPHA:500166
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Hypoplasia of the corpus callosum, Irritability, Microcephaly, Progressive micr... OMIM:616657
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... OMIM:608716
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Global brain atrophy, Hypoplasia of the pons OMIM:618276
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:611603
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog... ORPHA:171680
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... OMIM:618492
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol... ORPHA:300573
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang... ORPHA:255182
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum, Macrocephaly ORPHA:459074
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231226
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Anemia, Elevated transferrin s... OMIM:606069
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Cerebral atrophy, Small basal ganglia, Abnormal periventricular whi... OMIM:616900
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... ORPHA:1667
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Macrocephaly, Subcorti... OMIM:600348
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissenceph... OMIM:614833
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Septo-optic dysplasia, Lissence... ORPHA:1528
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Autosomal Recessive Primary Microcephaly
Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum ORPHA:2512
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti... OMIM:218670
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the brainstem, Hypoplasia... ORPHA:2524
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic ane... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dysplastic corpus callosum, Microcepha... OMIM:620001
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circu... OMIM:251880
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Hydrocephalus, Congenital, X-Linked
Macrocephaly, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:307000
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia OMIM:617093
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul... ORPHA:255138
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Dysplastic corpus callosum, Periventricular white matter hyperintensities OMIM:619737
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Leukocytosis ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619055
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... ORPHA:488627
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... OMIM:617156
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Anemia, Increased circulating NT-proBNP concentration ORPHA:85443
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatosplenomegaly, Anemia, Hemolytic anemia OMIM:619487
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Hypoglycemia OMIM:618329
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Secondary microcephaly, Dysplastic corpus callosum, Primary microce... ORPHA:357058
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B l... ORPHA:79324
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Wilson Disease
Hypouricemia, Hypoalbuminemia, Glycosuria, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, In... OMIM:277900
Microcephaly 26, Primary, Autosomal Dominant
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pachygyria, Simplifi... OMIM:619179
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia ORPHA:505248
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... ORPHA:99826
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Basal ganglia calcification, Cerebral calcification, Dysplastic cor... OMIM:617281
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Anemia, Refractory anemia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Co... ORPHA:186
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus callosum, Hyperintensity o... ORPHA:544488
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Cerebellar hypoplasia, Dysplastic corpus callosum OMIM:618810
Primary Sclerosing Cholangitis
Hypoalbuminemia, Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly ORPHA:171
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys... ORPHA:314679
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia ORPHA:2331
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Mild microcephaly ORPHA:363444
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Sp... OMIM:270400
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:151050
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Zttk Syndrome
Periventricular leukomalacia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplasti... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cerebellar hypoplasia, Dysplastic corpus callosum, Macrocephaly, Relative macrocephaly, Thick cor... OMIM:300967
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal cerebral cortex morphology, Global brain atrophy, Lateral ventricle dilatation, Polymicr... ORPHA:500150
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Hyperinsulinemia, Reduced thyroxin-binding globulin, Impaire... ORPHA:79318
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cerebellar hypoplasia, Relative macrocephaly, Dysplastic corpus callosum, Hypoplasia of the corpu... ORPHA:466791
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Cortical dysplasia, ... OMIM:613406
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Secondary microcephaly, Primary microcephaly, Hypoplasia of the corpus callosum, Irritability ORPHA:447997

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.

Phenotype Allele Zygosity Sex Life Stage
Thyroid - process of degenerative change Slc1a4tm1e(KOMP)Wtsi HOM Early adult

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 Slc1a4.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neuronal glutamate transporters control reciprocal inhibition and gain modulation in D1 medium spiny neurons. eLife (July 2023) Slc1a4tm1a(KOMP)Wtsi PMC10411972
Inhibition of glial D-serine release rescues synaptic damage after brain injury. Glia (February 2022) Slc1a4tm1a(KOMP)Wtsi PMC9305835
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc1a4tm1e(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc1a4tm1e(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)