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Gene: Cers5 MGI:1919199

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Gene Summary

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

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
decreased bone mineral content Cers5tm2b(KOMP)Mbp HOM Early adult 1.04×10-08
decreased exploration in new environment Cers5tm2b(KOMP)Mbp HOM Early adult 5.39×10-08
abnormal motor coordination/balance Cers5tm2b(KOMP)Mbp HOM Early adult 2.07×10-05
decreased bone mineral density Cers5tm2b(KOMP)Mbp HOM Early adult 9.05×10-08
abnormal bone structure Cers5tm2b(KOMP)Mbp HOM Early adult 1.11×10-11
increased circulating sodium level Cers5tm2b(KOMP)Mbp HOM Early adult 2.87×10-05
decreased thigmotaxis Cers5tm2b(KOMP)Mbp HOM Early adult 5.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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
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

View images
Sleep Wake

Wake state (bmp file)

8 Images

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X-ray

XRay Images Forepaw

13 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images
X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images
Eye Morphology

Images Ophthalmoscopy

6 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

View 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
Irritability, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Hypernatremia OMIM:304800
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia, Confusion, Depression, Cognitive impairment, Memory impairment ORPHA:163921
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Chorea, Hyperka... ORPHA:94093
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Anorexia, Depression ORPHA:178029
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior,... ORPHA:100924
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia,... ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... ORPHA:682
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Art... OMIM:619381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Confusion, Depression ORPHA:83601
Whipple Disease
Hyponatremia, Ataxia, Anorexia, Depression, Arthritis, Polydipsia ORPHA:3452
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab... OMIM:603553
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia ORPHA:449285
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Osteomyelitis, Increased circulating renin level ORPHA:171876
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Familial Dysautonomia
Hyponatremia, Ataxia, Recurrent fractures, Impaired pain sensation, Osteolysis ORPHA:1764
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Generalized bone demineraliza... ORPHA:199299
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Somatic sensory dysfunction, Confusion, Depression, Pseudobulbar para... ORPHA:79276
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Alg8-Cdg
Hyponatremia, Ataxia, Camptodactyly ORPHA:79325
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Infant Botulism
Hyponatremia, Anorexia, Dysphagia ORPHA:178478
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Legionnaires Disease
Hyponatremia, Ataxia, Anorexia ORPHA:549
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... ORPHA:247353
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Mirage Syndrome
Hyponatremia, Radial club hand, Hyperkalemia OMIM:617053
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Japanese Encephalitis
Hyponatremia, Stiff neck, Anorexia, Elbow flexion contracture, Choreoathetosis, Cognitive impairment ORPHA:79139
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Ri... OMIM:219800
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Somatic sensory dysfunction ORPHA:79473
Alg12-Cdg
Hyponatremia, Abnormal bone ossification, Hypoalbuminemia, Hypocholesterolemia, Camptodactyly ORPHA:79324
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Cogniti... OMIM:610505
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:289548
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Anorexia ORPHA:361
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Osteomalacia, Hypoammonemia, Recurrent fractures, Joint stiffness, Depression, Hypo... ORPHA:534
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Impaired pain sensation, Hyperlipidemia, Hyperkalemia, Depress... ORPHA:293987
Rabin-Pappas Syndrome
Hyponatremia, Tracheomalacia OMIM:620155
Chédiak-Higashi Syndrome
Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Increased circulating fe... ORPHA:167
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Shigellosis
Hyponatremia, Arthritis, Abnormal blood ion concentration, Anorexia ORPHA:810
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... ORPHA:89938
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Pituitary Apoplexy
Hyponatremia, Confusion ORPHA:95613
Panhypophysitis
Hyponatremia, Polydipsia ORPHA:95513
Holoprosencephaly
Hyponatremia, Joint hyperflexibility, Chorea, Cognitive impairment ORPHA:2162
Lysosomal Acid Lipase Deficiency
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hyperkalemia, Cognitive impairment... ORPHA:275761
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia OMIM:602522
Adenohypophysitis
Hyponatremia ORPHA:95512
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Ataxia OMIM:618426
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Sheehan Syndrome
Hyponatremia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia ORPHA:544482
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Short attention span, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cognitive impairment, Polydipsia, Increased serum bile acid concentration ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hyperkalemia, Radioul... OMIM:201750
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, 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
Cers5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cers5tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, 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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