Gene Summary

shisa like 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 freezing behavior Shisal1em1(IMPC)Ccpcz HOM Early adult 9.47×10-05
abnormal thymus morphology Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged gallbladder Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
increased fasting circulating glucose level Shisal1em1(IMPC)Ccpcz HOM Early adult 1.33×10-05
abnormal retina blood vessel morphology Shisal1em1(IMPC)Ccpcz HOM Early adult 1.45×10-07
abnormal gallbladder morphology Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Shisal1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Shisal1em1(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.


XRay Images Hind Leg and Hip

40 Images


XRay Images Whole Body Dorso Ventral

40 Images


XRay Images Whole Body Lateral Orientation

20 Images


XRay Images Skull Dorso Ventral Orientation

19 Images


XRay Images Forepaw

19 Images


XRay Images Skull Lateral Orientation

19 Images

Human diseases caused by Shisal1 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 Shisal1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Increased glucagon level, Abnormal biliary tract morphology, Neoplasm of the panc... ORPHA:438274
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Choleste... OMIM:600803
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice OMIM:214980
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Type II diabetes mellitus, Giant cell hepatitis, Depre... ORPHA:79095
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia ORPHA:79278
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Exerc... OMIM:232800
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... ORPHA:231222
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Retinopathy, Hematuria, Hemolytic anemi... OMIM:603903
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Anxiety, Retinal thinning, Hyperglycemia OMIM:618970
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Mirizzi Syndrome
Dark urine, Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... ORPHA:521219
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... ORPHA:288
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Perifoveal ring of hyperautofluorescence, Chronic active hepa... OMIM:240300
Isolated Biliary Atresia
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... OMIM:611881
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Optic disc ... OMIM:615512
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Retinitis Pigmentosa 89
Micronodular cirrhosis, Rod-cone dystrophy, Intrahepatic bile duct dilatation, Hepatosplenomegaly... OMIM:618955
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Meckel Syndrome, Type 6
Hepatic cysts, Renal cyst, Absent gallbladder, Horseshoe kidney, Hepatic fibrosis, Bile duct prol... OMIM:612284
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Micropenis, Aggressive behavior, Decreased testicular size, Cryptorchidism, Low f... OMIM:300534
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Multicystic kidney dysplasia, Abn... ORPHA:3032
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Retinal dystrophy OMIM:619273
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cholelithiasis, Elevated hepatic transaminase, Hepatic failure OMIM:614886
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Emotional lability, Neoplasm of the gallbladder, Urin... ORPHA:512
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Papilledema, Thrombocytopenia, Normochromic anemia OMIM:618775
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism, Chorioretinal coloboma ORPHA:96097
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hereditary Hemorrhagic Telangiectasia
Nephrolithiasis, Cholelithiasis, Hepatic failure, Retinal telangiectasia, Cirrhosis, Conjunctival... ORPHA:774
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... OMIM:180080
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Micropenis, Aplasia/Hypoplasia of the gallbladder, Hydronephrosis, Cryptorchidism ORPHA:96092
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Splenogonadal fusion, Biliary tract abnormalit... OMIM:156810
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes ORPHA:563609
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Apathy, Abnormal retinal vascular morphology, Depression,... ORPHA:247691
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Cherry red spot of... ORPHA:77293
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Aggressive behavior OMIM:301066
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit... ORPHA:1414
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Cirrhosis, Ma... OMIM:208540
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Senior-Loken Syndrome 8
Global glomerulosclerosis, Rod-cone dystrophy, Nephronophthisis, Intrahepatic bile duct dilatatio... OMIM:616307
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia OMIM:520000
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hypospadias, Aggressive behavior, Hydronephrosis ORPHA:464738
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal retinal vascular morphology, Hypermyelinated retinal n... ORPHA:909
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ... OMIM:607330
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Happy demeanor, Optic atrophy, Urinary retention, Retinal atrop... ORPHA:97297
Joubert Syndrome 6
Retinal degeneration, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Stage 5 chroni... OMIM:610688
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Insulin resistance, Cirrhosis, Maternal diabetes, In... OMIM:604367
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic disc pallor OMIM:213700
Hyperinsulinemia, Hyperglycemia OMIM:616214
Congenital Alveolar Capillary Dysplasia
Asplenia, Annular pancreas, Absent gallbladder, Hydronephrosis ORPHA:210122
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia OMIM:263700
Nephronophthisis 13
Global glomerulosclerosis, Nephronophthisis, Intrahepatic bile duct dilatation, Hepatic cysts, Mi... OMIM:614377
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Splenomegaly, Depression, Hypospadias, Hypoplasia of the thym... ORPHA:567
Pentalogy Of Cantrell
Hypospadias, Absent gallbladder, Polysplenia ORPHA:1335
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Long penis, Hypoglycemia, In... OMIM:262190
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Jaundice, Cirrhosi... ORPHA:480520
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased re... ORPHA:273
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Por... OMIM:267010
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia OMIM:615954
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Ch... ORPHA:79303
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Senior-Boichis Syndrome
Chronic kidney disease, Reduced renal corticomedullary differentiation, Anemia, Cirrhosis, Hepato... ORPHA:84081
Metachromatic Leukodystrophy, Adult Form
Depression, Cholecystitis, Optic atrophy, Emotional lability, Neoplasm of the gallbladder, Urinar... ORPHA:309271
Trisomy 8P
Annular pancreas, Micropenis, Aplasia/Hypoplasia of the gallbladder, Hydronephrosis, Cryptorchidi... ORPHA:264450
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Proteinuria, Polycystic ovaries, Enlarged polycystic ovaries, Hyper... ORPHA:2298
Steinfeld Syndrome
Retinal coloboma, Absent gallbladder OMIM:184705
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder ORPHA:556955
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Apathy, Splenomegaly, Cirrhosis, Hepatocell... ORPHA:465508
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Renal insufficien... OMIM:615986
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Ovarian cyst, Cholestasis, Long penis, Hepatic fibr... OMIM:246200
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Bladder exstrophy, Cholestasis, Prolonged neonatal jaundice, Bile ... OMIM:301068
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Thymus hyperplasia, Polyc... ORPHA:2969
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Splenomegaly, Papilledema, Hepatosplenomegaly, Abnormality of the spleen, Hepatic... ORPHA:2072
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Splenomegaly, Unilateral renal agenesis, Ovarian cyst, Hypoplas... OMIM:188400
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Micropenis, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic... ORPHA:83617
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic steatosis, Opti... OMIM:618329
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Biliary atresia, Ureteral duplication, Pancreatic hypoplasia, ... ORPHA:2255
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypospadias, Absent gallbladder, Hydronephrosis, Anemia, Thrombocytop... ORPHA:163979
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Cryptorchidism, Hydronephrosis OMIM:300712
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Glycosuria, Ureteral duplication, Pancreatic hypoplasia, Absent gallbladder, Dia... OMIM:600001
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Ring Chromosome 13 Syndrome
Urogenital sinus anomaly, Retinoblastoma, Micropenis, Abnormal renal physiology, Hypospadias, Abn... ORPHA:96176
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Abnormality of the ... ORPHA:2869
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... ORPHA:562639
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Retinal degeneration, Polycystic liver disease, Pancreatic fib... OMIM:208500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Williams Syndrome
Cholelithiasis, Proteinuria, Polycystic ovaries, Cardiomegaly, Nephrolithiasis, Bladder diverticu... ORPHA:904
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Tetrasomy 9P
Micropenis, Biliary atresia, Multiple renal cysts, Abnormal chorioretinal morphology, Inappropria... ORPHA:3310
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Optic atrophy, Absent gallbladder, Horseshoe kidney OMIM:617140
Trisomy 10P
Absent gallbladder, Multiple renal cysts ORPHA:171929
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis OMIM:617925
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Anemia, Hyperglyc... OMIM:609069
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Glucose intolerance, Exocrine pancreatic insufficiency, Unilateral renal agenesi... OMIM:137920
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormality of the g... ORPHA:3376
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Abnormality of the gallbladder, Abnormality of mesente... ORPHA:2075
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Peters-Plus Syndrome
Retinal coloboma, Hypospadias, Ureteral duplication, Biliary tract abnormality, Renal hypoplasia,... OMIM:261540
Vacterl/Vater Association
Hypoplasia of penis, Hypospadias, Abnormality of the urethra, Multicystic kidney dysplasia, Abnor... ORPHA:887
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, Bile duct pro... OMIM:261515
Familial Adenomatous Polyposis
Pituitary adenoma, Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Congenital hypertrophy of re... ORPHA:733
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... OMIM:619991
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Optic nerve hypoplasia, Optic atrophy, Absent gallbladder, Horseshoe k... ORPHA:500150
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... OMIM:619525
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Retinopathy, Glycosuria, Moderate albuminuria, Pancreatic h... ORPHA:99885
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Type I diabetes mellitus, Autoimmune hem... ORPHA:436252
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elevated hepatic transamin... OMIM:613610
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Cholestasis, Hypoglycemia, Elevated hepatic transaminase, Po... OMIM:613658
Proteus Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Long pe... ORPHA:744
Meckel Syndrome, Type 1
Splenomegaly, Abnormality of the ureter, Accessory spleen, Cystic renal dysplasia, Malformation o... OMIM:249000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Prolong... OMIM:619534
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Optic at... ORPHA:818
Wolf-Hirschhorn Syndrome
Hypospadias, Retinopathy, Abdominal situs inversus, Optic atrophy, Abnormality of the gallbladder... ORPHA:280
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183


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 Shisal1

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 Shisal1.

No publications found that use IMPC mice or data for Shisal1.

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MGI Allele Allele Type Produced
Shisal1em1(IMPC)Ccpcz Exon Deletion Mice

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