Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

CUB and zona pellucida-like domains 1
UTCZP,  Itmap1,  ERG-1,  UO-44

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cuzd1 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 Cuzd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Chylous Ascites
Pancreatitis ORPHA:1160
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... ORPHA:65682
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis OMIM:619386
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst OMIM:167800
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis OMIM:620137
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis OMIM:618805
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis ORPHA:676
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis ORPHA:135
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... OMIM:618935
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... ORPHA:549
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Propionic Acidemia
Hepatomegaly, Pancreatitis, Eczematoid dermatitis OMIM:606054
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Pericarditis ORPHA:188
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... ORPHA:2552
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:2348
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Pancreatitis ORPHA:412057
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly ORPHA:79083
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism OMIM:145981
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Maple Syrup Urine Disease, Type Ia
Pancreatitis OMIM:248600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis OMIM:251000
Acute Lung Injury
Pneumonia, Acute pancreatitis ORPHA:178320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis OMIM:236200
Congenital Syphilis
Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M... ORPHA:499009
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja... ORPHA:521219
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... ORPHA:480520
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension... ORPHA:171
Citrullinemia Type Ii
Hepatic fibrosis, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma ORPHA:247585
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... OMIM:219700
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... ORPHA:444490
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepat... OMIM:232220
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy... OMIM:619487
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Hepatitis, C... ORPHA:562
Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis ORPHA:412
Pneumonia, Folliculitis, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Abnormality... ORPHA:228123
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Pancreatitis, Neoplasm of the pancreas ORPHA:370348
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn... ORPHA:449395
Behçet Disease
Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp... ORPHA:117
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hepatic periportal necrosis ORPHA:26791
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Gout, Hepatic steatosis, Increased hepatic gl... ORPHA:79259
Familial Mediterranean Fever
Erysipelas, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthrit... ORPHA:342
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Glycogen Storage Disease Ia
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma OMIM:232200
Acquired Generalized Lipodystrophy
Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis ORPHA:79086
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism OMIM:600740
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:280365
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis ORPHA:449427
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Hepatosplenomegaly,... ORPHA:3260
Pauci-Immune Glomerulonephritis
Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... ORPHA:93126
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly, Recurren... OMIM:618268
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... ORPHA:900
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes ORPHA:20
Igg4-Related Ophthalmic Disease
Keratitis, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cholangitis, Thyroiditis, Retroperiton... ORPHA:449563
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Pancreatitis, Acute colitis ORPHA:90038
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst OMIM:620371
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly ORPHA:565612
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, Hypothyroidism, Pancreatiti... ORPHA:733
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis ORPHA:537
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, St... OMIM:232240
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Hypoparathyroidism, Recurrent pancreatitis, Hypothyroidism ORPHA:550
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis ORPHA:544482
Lysinuric Protein Intolerance
Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, H... ORPHA:470
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:222700
Visceral Myopathy 1
Pancreatitis OMIM:155310
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism ORPHA:99880
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... ORPHA:99827
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism ORPHA:143
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Splenomegaly, Chronic pancreatitis, Hepatic steatosis OMIM:610717
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Jaundice, Maculopapular exanthema, Pericar... ORPHA:99826
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Lipodystrophy, Congenital Generalized, Type 1
Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis OMIM:608594
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis ORPHA:98908
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis OMIM:269700
Scorpion Envenomation
Myocarditis, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Yellow Fever
Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis OMIM:606721
Alström Syndrome
Hepatic fibrosis, Recurrent pneumonia, Hepatitis, Decreased response to growth hormone stimulatio... ORPHA:64


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 Cuzd1

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 Cuzd1.

No publications found that use IMPC mice or data for Cuzd1.

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
Cuzd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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