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Gene: Sptssa MGI:1913399

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Gene Summary

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

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
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
embryonic lethality prior to tooth bud stage Sptssatm1b(KOMP)Wtsi HOM   E12.5 0.00
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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Whole Body Dorso Ventral

12 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images
Adult LacZ

LacZ Images Section

8 Images

View images
Sleep Wake

Wake state (bmp file)

1 Images

View images
Eye Morphology

Images Ophthalmoscopy

3 Images

View images
X-ray

XRay Images Forepaw

12 Images

View images
X-ray

XRay Images Skull Lateral Orientation

12 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

10 Images

View 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.

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

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
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:240200
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures, Hyperkalemia ORPHA:199296
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Low plasma citrulline, Hyper... OMIM:615751
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... ORPHA:3008
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:614736
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Neuroleptic Malignant Syndrome
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... ORPHA:94093
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... ORPHA:35878
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... OMIM:620211
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia OMIM:613845
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated circulatin... OMIM:615160
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypoglycemia ORPHA:173
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia ORPHA:391673
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... OMIM:231100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hyponatremia, Hypoglycemic seizures, Hyperkalemia ORPHA:361
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia OMIM:306000
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hyponatremia, Hypercalcemia ORPHA:199299
Wolcott-Rallison Syndrome
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyponatremia, H... ORPHA:1667
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... ORPHA:100924
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hypoglycemia, Hyperkalemia ORPHA:90790
Snakebite Envenomation
Hyponatremia ORPHA:449285
Mirage Syndrome
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:617053
Hartsfield Syndrome
Hypernatremia OMIM:615465
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Renal Hypoplasia, Bilateral
Hyponatremia, Glycosuria, Hyperkalemia ORPHA:97362
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Alg8-Cdg
Hyponatremia ORPHA:79325
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic... ORPHA:411634
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hypoglycemia, Hyponatremia, Hyper... ORPHA:95409
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatremia, Hypercalc... ORPHA:88673
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Infant Botulism
Hyponatremia ORPHA:178478
Alg12-Cdg
Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Type I diabetes mellitus, Hypogly... ORPHA:85138
Legionnaires Disease
Hyponatremia ORPHA:549
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia ORPHA:810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia, Hyperkalemia ORPHA:293978
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Hypocalcemia, Hypokalemia, Calcinosis OMIM:617913
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... ORPHA:289548
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia OMIM:616026
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Cystinosis, Nephropathic
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hypokalemia, Hypophosphatemic rickets, Reduced b... OMIM:219800
Adenohypophysitis
Hyponatremia ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Holoprosencephaly
Diabetes mellitus, Hyponatremia, Hypoglycemia ORPHA:2162
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:602522
Panhypophysitis
Hyponatremia ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Japanese Encephalitis
Hyponatremia ORPHA:79139
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Bartter Syndrome Type 4
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia ORPHA:89938
Familial Dysautonomia
Hyponatremia ORPHA:1764
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia ORPHA:167
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Hyperkalemia ORPHA:275761
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia ORPHA:534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating renin level, Hypoglycemia, Hyperkalemia OMIM:201750

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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