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
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
abnormal motor coordination/balance Cers5tm2b(KOMP)Mbp HOM Early adult 2.34×10-05
decreased exploration in new environment Cers5tm2b(KOMP)Mbp HOM Early adult 5.39×10-08
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:
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 0.67% (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)
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)
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)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
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.

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

8 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
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Ataxia, Depression, Anxiety, Hyponatremia, Memory impairment ORPHA:163921
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia OMIM:616949
Neuroleptic Malignant Syndrome
Chorea, Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine ki... ORPHA:94093
Central Diabetes Insipidus
Anxiety, Depression, Hyponatremia ORPHA:178029
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Ataxia, Neonatal hype... ORPHA:3008
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... ORPHA:100924
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... OMIM:615751
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Hyperkalemic Periodic Paralysis
Flexion contracture, Paresthesia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase... ORPHA:682
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Ataxia, Increa... OMIM:267700
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Depression, Hyponatremia ORPHA:83601
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Irritability, Ataxia, Increased circulating ferritin concentration, Hy... OMIM:603553
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Arthritis, Elevated circulating C-reactive protein concentration, Hy... OMIM:619381
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Osteomyelitis, Hyponatremia ORPHA:171876
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Familial Dysautonomia
Recurrent fractures, Ataxia, Impaired pain sensation, Osteolysis, Hyponatremia ORPHA:1764
Alg8-Cdg
Camptodactyly, Ataxia, Hyponatremia ORPHA:79325
Porphyria Variegata
Abnormal circulating porphyrin concentration, Somatic sensory dysfunction, Anxiety, Hyponatremia ORPHA:79473
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Irritability ORPHA:173
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Whipple Disease
Arthritis, Ataxia, Depression, Hyponatremia ORPHA:3452
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Acute Intermittent Porphyria
Somatic sensory dysfunction, Depression, Anxiety, Hyponatremia, Mental deterioration, Memory impa... ORPHA:79276
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia OMIM:617913
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Combined Oxidative Phosphorylation Deficiency 3
Cognitive impairment, Apathy, Ataxia, Elevated circulating creatine kinase concentration, Hyperam... OMIM:610505
Snakebite Envenomation
Hyponatremia ORPHA:449285
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Mirage Syndrome
Radial club hand, Hyperkalemia, Hyponatremia OMIM:617053
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Legionnaires Disease
Ataxia, Hyponatremia ORPHA:549
Alg12-Cdg
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... ORPHA:168558
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... ORPHA:289548
Japanese Encephalitis
Stiff neck, Cognitive impairment, Elbow flexion contracture, Choreoathetosis, Hyponatremia ORPHA:79139
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Ch├ędiak-Higashi Syndrome
Somatic sensory dysfunction, Cognitive impairment, Dementia, Ataxia, Increased circulating ferrit... ORPHA:167
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Rickets, ... OMIM:219800
Addison Disease
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Increased circulating renin level... ORPHA:85138
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Anxiety, Self-injurious behavior, Osteomalacia, Arthritis, Hypokalemia, Hypophospha... ORPHA:534
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperkalemia, Emotional lability, Impaired... ORPHA:293987
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Bartter Syndrome Type 4
Hypokalemia, Increased circulating renin level, Emotional lability, Hypochloremia, Hyponatremia, ... ORPHA:89938
Infant Botulism
Hyponatremia ORPHA:178478
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Holoprosencephaly
Chorea, Cognitive impairment, Joint hyperflexibility, Hyponatremia ORPHA:2162
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Hyperkalemia, Psychomotor deterioration, Hypercholesterolemia, Hyponatremia... ORPHA:275761
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia ORPHA:95409
Shigellosis
Arthritis, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Ataxia, Hyponatremia OMIM:618426
Adenohypophysitis
Hyponatremia ORPHA:95512
Panhypophysitis
Hyponatremia ORPHA:95513
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyperkalemia, Hyponatremia ORPHA:293978
Sheehan Syndrome
Hyponatremia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, J... OMIM:619991
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Autosomal Recessive Polycystic Kidney Disease
Cognitive impairment, Increased serum bile acid concentration, Hyponatremia ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Humeroradial synostosis, Joint contracture of the hand, Decreased circulating renin level, Hyperk... OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyperkalemia, Hyponatremia 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

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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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