Gene Summary

Name:
serine palmitoyltransferase, small subunit A
Synonyms:
1110002B05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Sptssatm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Sptssatm1b(KOMP)Wtsi HET Early adult 3.47×10-07
embryonic lethality prior to tooth bud stage Sptssatm1b(KOMP)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Sptssatm1b(KOMP)Wtsi HOM   E9.5 0.00
increased circulating sodium level Sptssatm1b(KOMP)Wtsi HET Early adult 6.93×10-07

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
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine 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
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus 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 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 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.

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Sleep Wake

Wake state (bmp file)

1 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

10 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 90B, Autosomal Recessive
OMIM:620417
Spastic Paraplegia 90A, Autosomal Dominant
OMIM:620416

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

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia OMIM:620423
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia ORPHA:446
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia ORPHA:6
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Snakebite Envenomation
Hyponatremia ORPHA:449285
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:617053
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Type I diabetes mellitus ORPHA:199299
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Glycosuria ORPHA:97362
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hartsfield Syndrome
Hypernatremia OMIM:615465
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia ORPHA:90791
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Alg8-Cdg
Hyponatremia ORPHA:79325
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Hypo... ORPHA:95409
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Infant Botulism
Hyponatremia ORPHA:178478
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia ORPHA:79324
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Addison Disease
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Hyper... ORPHA:85138
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia ORPHA:810
Legionnaires Disease
Hyponatremia ORPHA:549
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Recurrent hypoglycemia ORPHA:293978
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia OMIM:617913
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:168558
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus OMIM:616026
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:289548
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Adenohypophysitis
Hyponatremia ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Panhypophysitis
Hyponatremia ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Holoprosencephaly
Hyponatremia, Hypoglycemia, Diabetes mellitus ORPHA:2162
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Japanese Encephalitis
Hyponatremia ORPHA:79139
Familial Dysautonomia
Hyponatremia ORPHA:1764
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus ORPHA:544482
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Ch├ędiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperglycemia, Hyperlipidemia ORPHA:293987
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hyponatremia, Decreased circulating renin level, Hypoglycemia OMIM:201750
Spastic Paraplegia 90B, Autosomal Recessive
OMIM:620417
Spastic Paraplegia 90A, Autosomal Dominant
OMIM:620416

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 Sptssa

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 Sptssa.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Sptssatm1b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Sptssatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sptssatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sptssatm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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