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Gene: Slc13a1 MGI:1859937

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 13 (sodium/sulfate symporters), member 1
Synonyms:
Nas1,  NaSi-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc13a1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc13a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... OMIM:619598
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorchi... ORPHA:1988
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Micrognathia, Flat capital... OMIM:147891
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Hypospadias, Small for gestational age, Fractured radius, Cardiomegaly, Micrognathia... OMIM:616897
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Abnormality of the kidney... ORPHA:79333
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Hypospadias, Small for gestational age, Sandal gap, Crypt... OMIM:607143
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... OMIM:602080
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... ORPHA:1860
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Galactokinase Deficiency
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Premature ovarian insufficie... ORPHA:79237
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Fanconi-Bickel Syndrome
Nephrocalcinosis, Nephropathy, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... ORPHA:2088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seiz... OMIM:617798
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Renal agenesis, Short stature, Short femur, Micr... OMIM:277170
Pelviscapular Dysplasia
Congenital hip dislocation, Short stature, Short femur, Hypoplastic scapulae, Hypoplastic ilia, H... ORPHA:93333
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Seizure, Focal impaired awareness seizure, Tali... OMIM:620306
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Seizure, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... ORPHA:79303
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased response to gr... OMIM:614732
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Knee... OMIM:210710
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Disproportionate short-trunk short stature, ... ORPHA:94068
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Bowing of the legs, Trapezoidal distal femoral condy... OMIM:307800
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, E... OMIM:618188
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300009
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... OMIM:617093
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Micrognathia, Nephr... OMIM:613848
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Seizure, Hip dysplasi... OMIM:617219
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Short stature,... OMIM:616026
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retardation, Cryptor... OMIM:616145
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatomegaly, Seizure, Acholic stools, ... ORPHA:30391
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Elevated alkaline phosphatase of bone origin, Short stature, Irregular... ORPHA:289157
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... ORPHA:93324
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, ... ORPHA:508488
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla... ORPHA:73224
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Hypercalciuria, Nephrocalcinosis, ... OMIM:300990
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Maternal Uniparental Disomy Of Chromosome 2
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... ORPHA:96179
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tonic seizure, Tapered finger, Seizure, Atonic seizure... OMIM:618367
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C... ORPHA:2839
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Hypoplasia of the thymus, Genu varum, Long toe, Short stature, Hypospadias, Cryptor... OMIM:264090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Proximal placement of thumb,... OMIM:616263
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... ORPHA:2636
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Hypercholesterolemia, Camptodactyly of fin... OMIM:309000
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Short stature, Cryptorchidi... OMIM:134780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Seizure, Aplasia/hypoplasia of the femur, Clinodact... ORPHA:2769

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 Slc13a1

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 Slc13a1.

No publications found that use IMPC mice or data for Slc13a1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc13a1tm91697(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc13a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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