banner
Genes Phenotypes Help, News, Blog

Gene: Slc1a1 MGI:105083

Log in to follow

Gene Summary

Name:
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Synonyms:
EAAC1,  EAAT3,  MEAAC1,  D130048G10Rik

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
increased circulating iron level Slc1a1tm1b(KOMP)Wtsi HOM Early adult 1.61×10-07
fused cornea and lens Slc1a1tm1b(KOMP)Wtsi HOM   Early adult 1.89×10-07
increased exploration in new environment Slc1a1tm1b(KOMP)Wtsi HOM Early adult 1.68×10-05
increased circulating sodium level Slc1a1tm1b(KOMP)Wtsi HOM Early adult 2.89×10-06
increased vertical activity Slc1a1tm1b(KOMP)Wtsi HOM Early adult 2.26×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote Ambiguous
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

10 Images

View images
Sleep Wake

Wake state (bmp file)

14 Images

View images
Adult LacZ

LacZ Images Section

24 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View images

Human diseases caused by Slc1a1 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 Slc1a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730

The table below shows human diseases predicted to be associated to Slc1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia OMIM:238700
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Hypernatremia OMIM:304800
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Phenylketonuria
Aminoaciduria ORPHA:716
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Diaminopentanuria
Hyperlysinuria, Ataxia, Cystinuria OMIM:222350
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia, Confusion, Depression, Cognitive impairment, Memory impairment ORPHA:163921
Saccharopinuria
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria OMIM:268700
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Urocanase Deficiency
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia OMIM:276880
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Anorexia, Depression ORPHA:178029
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Carnosinemia
Carnosinuria OMIM:212200
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal circulating porphyrin concentration, Abnormal fea... ORPHA:100924
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Recurrent hand f... ORPHA:3008
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... ORPHA:94093
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Urocanic Aciduria
Broad-based gait, Ataxia, Urocanic aciduria, Gait ataxia, Truncal ataxia ORPHA:210128
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Lacticaciduria OMIM:619063
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... ORPHA:682
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Inability to walk, Organic aciduria OMIM:617184
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria, Lethargy ORPHA:35706
Infant Botulism
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis ORPHA:178478
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Cataract OMIM:620157
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Confusion, Depression ORPHA:83601
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Ketonuria, Glycosuria OMIM:618857
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia ORPHA:449285
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Alg8-Cdg
Hyponatremia, Cataract, Ataxia ORPHA:79325
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Familial Dysautonomia
Hyponatremia, Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturban... ORPHA:1764
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Aceruloplasminemia
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, D... OMIM:604290
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Lacticaciduria, Lethargy OMIM:619386
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Inability to walk, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... ORPHA:411634
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketonuria, Glycosuria ORPHA:2089
Whipple Disease
Hyponatremia, Ataxia, Anorexia, Depression, Polydipsia ORPHA:3452
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Richards-Rundle Syndrome
Ketonuria, Ataxia, Gait disturbance ORPHA:1399
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Confusion, Depression, Pseudobulbar paralysis, Mental deterioration, ... ORPHA:79276
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Renal Hypoplasia, Bilateral
Hyponatremia, Astigmatism, Hyperkalemia ORPHA:97362
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia ORPHA:1667
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Mitochondrial Dna Depletion Syndrome 18
Falls, Lacticaciduria OMIM:618811
Hartsfield Syndrome
Hypernatremia OMIM:615465
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Anorexia OMIM:619381
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Lethargy OMIM:210200
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Propionic Acidemia
Organic aciduria ORPHA:35
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Legionnaires Disease
Hyponatremia, Ataxia, Anorexia ORPHA:549
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract OMIM:606069
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Rabin-Pappas Syndrome
Hyponatremia, Cataract OMIM:620155
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Ataxia ORPHA:23
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia ORPHA:199299
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Ataxia OMIM:614707
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili... ORPHA:167
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Anorexia ORPHA:361
Pituitary Apoplexy
Hyponatremia, Confusion, Mydriasis ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Cogniti... OMIM:610505
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Corneal crystals, ... OMIM:219800
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Lacticaciduria OMIM:618247
Tyrosinemia, Type Iii
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Shigellosis
Hyponatremia, Anorexia, Abnormal blood ion concentration, Conjunctivitis, Corneal ulceration ORPHA:810
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria OMIM:614741
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ... OMIM:246450
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Alpha-aminoad... OMIM:605711
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, L... OMIM:253270
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Depression, Bu... ORPHA:534
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Japanese Encephalitis
Hyponatremia, Cognitive impairment, Choreoathetosis, Anorexia ORPHA:79139
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... ORPHA:48818
Holocarboxylase Synthetase Deficiency
Lethargy, Organic aciduria, Ataxia ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Panhypophysitis
Hyponatremia, Polydipsia ORPHA:95513
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia OMIM:602522
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... ORPHA:293987
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... ORPHA:89938
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hyperkalemia, Cognitive impairment... ORPHA:275761
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Holoprosencephaly
Hyponatremia, Cognitive impairment, Chorioretinal coloboma, Cyclopia, Iris coloboma ORPHA:2162
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Ataxia OMIM:618426
Adenohypophysitis
Hyponatremia ORPHA:95512
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Ketonuria, Hyperglycinuria, Organic aciduria OMIM:210210
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Renal tubular acidosis, Organic aciduria, Nonprogressive cerebellar ataxia ORPHA:431361
Hypermanganesemia With Dystonia 1
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... OMIM:613280
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... OMIM:615234
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Sheehan Syndrome
Hyponatremia ORPHA:91355
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2... OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Methylmalonic aciduria OMIM:245400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Ataxia, Lacticaciduria OMIM:619167
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria OMIM:613070
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria, Ataxia OMIM:620191
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Inability to walk, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aci... ORPHA:26791
Leigh Syndrome
Ataxia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunct... ORPHA:506
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Ketonuria, 3-Methylglutaconic aciduria, Difficulty walking, Myoglobinuria OMIM:251900
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cognitive impairment, Polydipsia, Increased serum bile acid concentration ORPHA:731
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Histidinemia
Histidinuria OMIM:235800
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... OMIM:619991
Methylmalonic Aciduria, Cblb Type
Lethargy, Ketonuria, Methylmalonic aciduria OMIM:251110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Dysdiadochokinesis, Gait disturbance, Hyperglycine... ORPHA:309854
Glutaric Acidemia I
Choreoathetosis, Glutaric aciduria, Ketonuria OMIM:231670
Biotinidase Deficiency
Lethargy, Organic aciduria, Ataxia OMIM:253260
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 19
Lacticaciduria OMIM:615595
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Biotinidase Deficiency
Lethargy, Organic aciduria, Ataxia ORPHA:79241
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypoalbuminemia, Cognitive impairment, Hypermethioninemia, Abnormality of i... OMIM:222470
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria,... ORPHA:99885
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:231226
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Ataxia, Ethylmalonic aciduria, Aciduria OMIM:203700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Beta-Thalassemia Major
Irritability, Abnormality of iron homeostasis ORPHA:231214
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Ataxia, Lacticaciduria, Lethargy OMIM:252010
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Leth... OMIM:557000
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Ataxia, Lacticaciduria, Gait ataxia, Abnormal renal tubule morphology ORPHA:255210
Pearson Syndrome
Renal insufficiency, Proteinuria, Ataxia, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Ataxia, Lacticaciduria OMIM:124000
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 Slc1a1

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 Slc1a1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Semi-quantitative distribution of excitatory amino acid (glutamate) transporters 1-3 (EAAT1-3) and the cystine-glutamate exchanger (xCT) in the adult murine spinal cord. Neurochemistry international (August 2020) Slc1a1tm1b(KOMP)Wtsi 32768484
Expression of Glutamate Transporters in Mouse Liver, Kidney, and Intestine. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society (January 2018) Slc1a1tm1b(KOMP)Wtsi 29303644
Neurochemical and behavioral characterization of neuronal glutamate transporter EAAT3 heterozygous mice. Biological research (September 2017) Slc1a1tm1a(KOMP)Wtsi PMC5605982
Reduced Slc1a1 expression is associated with neuroinflammation and impaired sensorimotor gating and cognitive performance in mice: Implications for schizophrenia. PloS one (September 2017) Slc1a1tm1b(KOMP)Wtsi PMC5590851

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
Slc1a1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc1a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc1a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter