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Gene: Skic3 MGI:2679923

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Gene Summary

Name:
SKI3 subunit of superkiller complex
Synonyms:
Ttc37

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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
increased mean corpuscular hemoglobin concentration Skic3em1(IMPC)Tcp HET   Early adult 2.43×10-05
embryonic lethality prior to organogenesis Skic3em1(IMPC)Tcp HOM   E9.5 0.00
increased circulating potassium level Skic3em1(IMPC)Tcp HET Early adult 1.38×10-05
increased freezing behavior Skic3em1(IMPC)Tcp HET Early adult 1.86×10-06
preweaning lethality, complete penetrance Skic3em1(IMPC)Tcp HOM   Early adult 0.00
cataract Skic3em1(IMPC)Tcp HET   Early adult 1.65×10-06
enlarged urinary bladder Skic3em1(IMPC)Tcp HET 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.

Eye Morphology

Images Slit Lamp

132 Images

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Eye Morphology

Images Ophthalmoscopy

102 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Skic3 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 Skic3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... ORPHA:84064

The table below shows human diseases predicted to be associated to Skic3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cataract 42
Cataract, Developmental cataract OMIM:115900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Trichomegaly
Cataract OMIM:190330
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve... OMIM:261600
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Abnorma... ORPHA:848
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D... OMIM:611590
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... OMIM:604278
Morm Syndrome
Hyperactivity, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalem... OMIM:608885
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid... ORPHA:57
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract OMIM:600886
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... OMIM:606069
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Hyperthreoninuria, Eye poking, Hyperthreoninemia OMIM:204000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... ORPHA:100924
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level ORPHA:556037
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Usher Syndrome Type 3
Depression, Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Hypergalactosemia ORPHA:570422
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Galactosemia I
Hemolytic anemia, Hepatomegaly, Cataract, Increased level of galactitol in plasma, Aminoaciduria,... OMIM:230400
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, H... ORPHA:36913
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Mirage Syndrome
Hyponatremia, Hypospadias, Hyperkalemia, Anemia, Leukopenia, Microphallus, Hypoplastic spleen, Ly... OMIM:617053
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Anorexia, Hyperk... ORPHA:199299
Cystinosis
Renal insufficiency, Corneal opacity, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoa... ORPHA:213
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Hypoalbuminemia, Microcytic anemia OMIM:618805
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Rena... ORPHA:95409
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Decreased urinary potassium OMIM:611489
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Wagro Syndrome
Cataract, Corneal opacity, Proteinuria, Aggressive behavior, Agitation, Low frustration tolerance... OMIM:612469
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Euphoria, Renal tubular dys... ORPHA:31826
Addison Disease
Normocytic anemia, Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Decre... ORPHA:85138
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Familial Glucocorticoid Deficiency
Hyponatremia, Anorexia, Renal salt wasting, Hyperkalemia, Hypernatriuria ORPHA:361
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Renal cyst, Self-injurious behavior, ... ORPHA:488618
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Dysphagia,... OMIM:222300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia... OMIM:617913
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Elevated circulati... ORPHA:340
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P... ORPHA:90791
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Familial Isolated Hypoparathyroidism
Nephropathy, Cataract, Hypocalcemia ORPHA:2238
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated... OMIM:613095
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Va... ORPHA:275761
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... ORPHA:247598
Aniridia 3
Aniridia, Cataract OMIM:617142
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Corneal crystals, Renal tubular dysfunction,... ORPHA:411629
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping OMIM:617101
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ... ORPHA:94089
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Anuria, Leukocytosis, Hyperkalemia, Oliguria, Hypocalcemia, Acute... ORPHA:544482
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin le... OMIM:612780
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Chronic kidney disease, Imbalanced hemoglobin ... ORPHA:330015
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... ORPHA:293987
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... ORPHA:31824
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... ORPHA:293978
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalize... OMIM:227810
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Irritability, Hyp... ORPHA:173
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:289548
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease... OMIM:308940
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Pearson Syndrome
Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Hepatomegaly, Hypokalemia, Hypomagnesemia... ORPHA:699
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... ORPHA:124
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating ren... OMIM:263800
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Mercury Poisoning
Hypokalemia, Acute kidney injury, Anorexia ORPHA:330021
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le... ORPHA:534
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hemoglobin, Depression, Self-injurious behavior, Hydronephrosis, An... ORPHA:847
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... OMIM:260400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration... OMIM:619377
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Hypokalemia, Nephrolithiasis OMIM:219090
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Adrenocortical Carcinoma
Increased urinary cortisol level, Irritability, Hypokalemia, Abnormality of urine homeostasis ORPHA:1501
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, M... OMIM:301040
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... ORPHA:99867
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... ORPHA:90794
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Ir... ORPHA:358
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra... ORPHA:99826
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Rabson-Mendenhall Syndrome
Enlarged ovaries, Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Vipoma
Hepatomegaly, Hypercalcemia, Anorexia, Normochromic anemia, Hypokalemia ORPHA:97282
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... ORPHA:90795
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Chordee, Microp... OMIM:201750
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Depression OMIM:170390
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353281
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Hypokalemia, Micropenis, Increased urinary 11-deoxycorticosterone level, Decreased c... ORPHA:90793
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ketonuria, Glycosuria, Hypokalemia, ... ORPHA:466677
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased circulating renin level OMIM:202010
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353277
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... ORPHA:508
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia ORPHA:786
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Bladde... ORPHA:286
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... ORPHA:84064

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 Skic3

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 Skic3.

No publications found that use IMPC mice or data for Skic3.

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MGI Allele Allele Type Produced
Skic3em1(IMPC)Tcp Exon Deletion Mice

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