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Gene: Casp14 MGI:1335092

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Gene Summary

Name:
caspase 14
Synonyms:
mini-ICE,  MICE

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
abnormal thymus morphology Casp14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin coloration Casp14em1(IMPC)Ccpcz HOM Early adult 8.68×10-08
abnormal skin morphology Casp14em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Casp14em1(IMPC)Ccpcz HOM Early adult 2.50×10-05
abnormal spleen morphology Casp14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Casp14em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

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 Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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Human diseases caused by Casp14 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 Casp14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320

The table below shows human diseases predicted to be associated to Casp14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313
Chronic Hiccup
Dehydration ORPHA:396
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Familial Cold Urticaria
Pruritus, Erythema, Dehydration ORPHA:47045
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Reticular Dysgenesis
Skin ulcer, Skin rash, Dehydration ORPHA:33355
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Polyhydramnios, Dehydration OMIM:616069
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin ORPHA:455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Harlequin Ichthyosis
Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypoadrenocorticism, Familial
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia OMIM:240200
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin ORPHA:166113
Enteric Anendocrinosis
Dehydration ORPHA:83620
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Netherton Syndrome
Skin rash, Eczema, Dehydration, Erythroderma, Dry skin ORPHA:634
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Central Diabetes Insipidus
Dehydration ORPHA:178029
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis ORPHA:254478
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma ORPHA:312
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Dehydration ORPHA:33110
Isovaleric Acidemia
Dehydration OMIM:243500
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin OMIM:604777
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Erythrod... OMIM:256500
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Dehydration ORPHA:171876
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Propionic Acidemia
Eczema, Dehydration OMIM:606054
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcem... ORPHA:199299
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin OMIM:607936
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia OMIM:614736
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Adrenal hyperplasia, Jaundice, Hyperkalemia, Macroorchidism, Hyperpigmentation of t... ORPHA:90790
Mirage Syndrome
Hyponatremia, Cryptorchidism, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lym... OMIM:617053
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:617525
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Adrenocorticotropic hormone excess, Increased circula... ORPHA:90791
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema OMIM:613943
Familial Renal Glucosuria
Dehydration ORPHA:69076
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Cystinosis
Dehydration ORPHA:213
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Oligohydramnios OMIM:208085
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Osteootohepatoenteric Syndrome
Pruritus, Dehydration OMIM:619377
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Addison Disease
Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Hypercalcemia, T... ORPHA:85138
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Familial Glucocorticoid Deficiency
Hyponatremia, Generalized hyperpigmentation, Cryptorchidism, Hyperkalemia, Testicular adrenal res... ORPHA:361
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... ORPHA:293978
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Wolcott-Rallison Syndrome
Ascites, Dehydration ORPHA:1667
Dend Syndrome
Dehydration ORPHA:79134
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter OMIM:188580
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Irreg... ORPHA:2969
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Edema, Dehydration ORPHA:20
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia, Anemia ORPHA:97362
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperpigmentation of the skin OMIM:175500
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... ORPHA:275761
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Cryp... ORPHA:168558
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Cryp... ORPHA:289548
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Goiter OMIM:613239
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Cholera
Palmoplantar cutis laxa, Dehydration ORPHA:173
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Renal Hypoplasia
Dehydration ORPHA:93101
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios OMIM:263200
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Shigellosis
Dehydration, Purpura ORPHA:810
Liddle Syndrome
Hypokalemia ORPHA:526
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Familial Hyperaldosteronism Type I
Hypokalemia, Adrenal hyperplasia ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Cryptorchidism, Adrenal hyperplasia, Hyperkalemia OMIM:201810
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Oligomeganephronia
Dehydration ORPHA:2260
Familial Hyperaldosteronism Type Ii
Hypokalemia, Adrenal hyperplasia ORPHA:404
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Colchicine Poisoning
Dehydration ORPHA:31824
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Vipoma
Erythema, Ascites, Dehydration ORPHA:97282
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy... ORPHA:544482
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level ORPHA:231580
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios ORPHA:223
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Familial Hyperaldosteronism Type Iii
Hypokalemia, Adrenal hyperplasia ORPHA:251274
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Skin ulcer, Dehydration ORPHA:534
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Recurrent skin infections, Edema, Dehydration ORPHA:79404
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... ORPHA:340
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Marburg Hemorrhagic Fever
Skin rash, Petechiae, Maculopapular exanthema, Dehydration ORPHA:99826
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Nelson Syndrome
Generalized hyperpigmentation, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenoc... ORPHA:199244
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration ORPHA:99885
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Congenital adrenal hyperplasia, Decreased testicular size, Hyperpigmentation of the ... OMIM:202010
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Ovarian neoplasm ORPHA:231632
Juvenile Nephropathic Cystinosis
Dehydration ORPHA:411634
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Microsporidiosis
Dehydration ORPHA:2552
Helix Syndrome
Hypokalemia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone ... ORPHA:293987
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Adrenal hyperplasia ORPHA:369929
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... OMIM:227810
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Cystinosis, Nephropathic
Dehydration OMIM:219800
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Polycystic ovaries, Hypokalemia, Hyperpigmentation of the skin, De... ORPHA:90795
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Dehydration OMIM:241200
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Cystic Fibrosis
Dehydration OMIM:219700
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Dehydration ORPHA:90794
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased circulating g... ORPHA:90793
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Multiple Endocrine Neoplasia Type 1
Dehydration ORPHA:652
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Hypokalemia OMIM:219090
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Proteus Syndrome
Thymus hyperplasia, Generalized hyperpigmentation, Testicular neoplasm, Enlarged polycystic ovari... ORPHA:744
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia ORPHA:1501
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Mercury Poisoning
Hypokalemia ORPHA:330021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Cryptorchidism, Hyperkalemia, Polycystic ovaries, Ovarian cyst, Decreased circulati... OMIM:201750
Rabson-Mendenhall Syndrome
Hypokalemia, Enlarged ovaries, Increased pineal volume, Increased C-peptide level ORPHA:769
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Gitelman Syndrome
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... ORPHA:358
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Adrenal hyperplasia ORPHA:786
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Acute pancreatitis, Increased circula... ORPHA:466677
Leprechaunism
Hypokalemia, Enlarged ovaries, Increased circulating renin level, Hepatomegaly ORPHA:508
Vascular Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Cryptorchidism, Hypokalemia, Melanocytic nevus ORPHA:286

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 Casp14

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 Casp14.

No publications found that use IMPC mice or data for Casp14.

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
Casp14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Casp14tm95061(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Casp14em1(IMPC)Ccpcz Indel Mice

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