Gene Summary

Name:
ceramide synthase 5
Synonyms:
Trh4,  CerS5,  2310081H14Rik,  Lass5

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
abnormal motor coordination/balance Cers5tm2b(KOMP)Mbp HOM Early adult 2.07×10-05
increased circulating sodium level Cers5tm2b(KOMP)Mbp HOM Early adult 2.87×10-05
decreased thigmotaxis Cers5tm2b(KOMP)Mbp HOM Early adult 5.10×10-05
abnormal bone structure Cers5tm2b(KOMP)Mbp HOM Early adult 1.11×10-11
decreased exploration in new environment Cers5tm2b(KOMP)Mbp HOM Early adult 5.57×10-08
decreased bone mineral density Cers5tm2b(KOMP)Mbp HOM Early adult 9.05×10-08
decreased bone mineral content Cers5tm2b(KOMP)Mbp HOM Early adult 1.04×10-08

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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  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)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 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)
Liver  Section images heterozygote 0.0% (0 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)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 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)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue 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)
Peyer's patch 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
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
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
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.

Adult LacZ

LacZ Images Section

68 Images

X-ray

XRay Images Forepaw

13 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Cers5 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 Cers5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability, Hypernatremia OMIM:304800
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Confusion, Cognitive impairment, Hyponatremia, Ataxia ORPHA:163921
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Chorea, Elevated circulating creatine kinas... ORPHA:94093
Central Diabetes Insipidus
Depression, Hyponatremia, Anorexia, Polydipsia ORPHA:178029
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Abnormal fear-indu... ORPHA:100924
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Anorexia, Elevated plasma citrulline, Abnormal temper tantrums, Hyperglutamatemi... ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Hypernatremia, Hyperglycinemia OMIM:620423
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Hyponatremia, Confusion ORPHA:83601
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Increased LDL choles... OMIM:267700
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... ORPHA:682
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Osteom... OMIM:619381
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Whipple Disease
Polydipsia, Anorexia, Depression, Arthritis, Hyponatremia, Ataxia ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ata... OMIM:603553
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Hartsfield Syndrome
Craniosynostosis, Hypernatremia OMIM:615465
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Osteomyelitis ORPHA:171876
Familial Dysautonomia
Impaired pain sensation, Hyponatremia, Ataxia, Recurrent fractures, Osteolysis ORPHA:1764
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis ORPHA:449285
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia OMIM:617913
Alg8-Cdg
Hyponatremia, Ataxia, Camptodactyly ORPHA:79325
Acute Intermittent Porphyria
Memory impairment, Depression, Confusion, Hyponatremia, Restlessness, Somatic sensory dysfunction... ORPHA:79276
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Late-Onset Isolated Acth Deficiency
Anorexia, Generalized bone demineralization, Hyperuricemia, Hyponatremia, Hypercalcemia ORPHA:199299
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Legionnaires Disease
Anorexia, Hyponatremia, Ataxia ORPHA:549
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Infant Botulism
Anorexia, Hyponatremia, Dysphagia ORPHA:178478
Mirage Syndrome
Hyperkalemia, Hyponatremia, Radial club hand OMIM:617053
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp... ORPHA:247353
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Addison Disease
Hyperkalemia, Anorexia, Generalized bone demineralization, Hyperuricemia, Increased circulating r... ORPHA:85138
Japanese Encephalitis
Anorexia, Stiff neck, Elbow flexion contracture, Cognitive impairment, Hyponatremia, Choreoathetosis ORPHA:79139
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Somatic sensory dysfunction ORPHA:79473
Cystinosis, Nephropathic
Rickets, Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decrease... OMIM:219800
Alg12-Cdg
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 3
Elevated circulating creatine kinase concentration, Cognitive impairment, Hyperammonemia, Hyponat... OMIM:610505
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Anorexia ORPHA:361
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo... ORPHA:289548
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Depression, Arthritis, Compulsive behaviors, Attention deficit hyperactivity disorde... ORPHA:534
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:95409
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Rabin-Pappas Syndrome
Hyponatremia, Tracheomalacia OMIM:620155
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Ch├ędiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Cognitive impairment, Hyponatremia, Ataxia, Dementia, Incr... ORPHA:167
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depression, Impaired pain sensation, Emotional lability, Hyperlipidemia, Compulsive b... ORPHA:293987
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Arthritis, Anorexia ORPHA:810
Bartter Syndrome Type 4
Hypokalemia, Emotional lability, Hypochloremia, Increased circulating renin level, Hyponatremia, ... ORPHA:89938
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:90791
Panhypophysitis
Polydipsia, Hyponatremia ORPHA:95513
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Hypokalemia, Abnormal fear-induced behavior, Osteoporosis OMIM:219090
Pituitary Apoplexy
Hyponatremia, Confusion ORPHA:95613
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Cognitive impairment, Hyponatremia, Psychomotor deterioration... ORPHA:275761
Holoprosencephaly
Joint hypermobility, Chorea, Hyponatremia, Cognitive impairment ORPHA:2162
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Adenohypophysitis
Hyponatremia ORPHA:95512
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Hypokalemia OMIM:618426
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia, Septic arthritis ORPHA:544482
Sheehan Syndrome
Hyponatremia ORPHA:91355
Liver Disease, Severe Congenital
Irritability, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Short attention... OMIM:619991
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hyponatremia, Increased serum bile acid concentration, Cognitive impairment ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Tarsal synostosis, Decreased circulating renin level, Camptodactyly, Humeroradial s... OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794

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 Cers5

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 Cers5.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Generation of a ceramide synthase 6 mouse lacking the DDRSDIE C-terminal motif. PloS one (July 2022) Cers5tm2b(KOMP)Mbp PMC9292091
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cers5tm2b(KOMP)Mbp PMC5503261

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
Cers5tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cers5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cers5tm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cers5tm2b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice
Cers5tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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