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,  UO-44,  ERG-1

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
Splenomegaly, Recurrent pancreatitis 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
Retinitis Pigmentosa 71
Pancreatitis OMIM:616394
Gallbladder Disease 1
Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice, Cholangitis, Pancreatitis, Ch... OMIM:600803
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cholestatic liver disease, Pancrea... ORPHA:65682
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Xerostomia, Jaundice, Keratoconjunctivit... OMIM:260480
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Pancreatitis OMIM:603471
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency, Pancreatitis OMIM:167800
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis OMIM:618805
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Lipodystrophy, Familial Partial, Type 7
Pancreatitis OMIM:606721
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Marburg Hemorrhagic Fever
Skin rash, Jaundice, Pancreatitis ORPHA:99826
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Splenomegaly, Recurrent ... OMIM:618935
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Episcleritis, Pan... ORPHA:727
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Cach Syndrome
Pancreatitis, Hepatosplenomegaly, Optic neuritis ORPHA:135
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Legionnaires Disease
Endocarditis, Pericarditis, Jaundice, Hepatitis, Splenomegaly, Encephalitis, Pancreatitis, Myocar... ORPHA:549
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Biliary... ORPHA:2552
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Pancreatitis ORPHA:412057
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Propionic Acidemia
Hepatomegaly, Eczema, Pancreatitis OMIM:606054
Maple Syrup Urine Disease
Pancreatitis OMIM:248600
Systemic Capillary Leak Syndrome
Pericarditis, Pancreatitis, Myocarditis ORPHA:188
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Acute Lung Injury
Pneumonia, Acute pancreatitis ORPHA:178320
Mirizzi Syndrome
Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, Jaundice, Abnormality of the duc... ORPHA:521219
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangitis, Congenital hepatic fibr... ORPHA:480520
Primary Sclerosing Cholangitis
Cirrhosis, Thyroiditis, Hepatocellular carcinoma, Uveitis, Ulcerative colitis, Cholelithiasis, Ch... ORPHA:171
Cholangitis, Biliary tract abnormality, Pancreatitis ORPHA:1549
Citrullinemia Type Ii
Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Pancreatitis ORPHA:247585
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Perianal abscess, Hepato... ORPHA:444490
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Minimal change glomerulonephritis, Pancreatitis ORPHA:1830
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hepatoce... ORPHA:562
Igg4-Related Kidney Disease
Prostatitis, Abnormality of mesentery morphology, Arteritis, Pericarditis, Interstitial pneumonit... ORPHA:449395
Peritonitis, Skin rash, Folliculitis, Pericarditis, Panniculitis, Pneumonia, Abnormality of the l... ORPHA:228123
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Orchitis, Erysipelas, Pancreatitis, Splenomegaly, Osteoarth... ORPHA:342
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout ORPHA:412
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Acute pancreatitis, Hepatomegaly ORPHA:79086
Cystic Fibrosis
Chronic sinusitis, Cirrhosis, Exocrine pancreatic insufficiency, Bronchiectasis, Biliary cirrhosi... OMIM:219700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hepatic periportal necrosis ORPHA:26791
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:280365
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Neoplasm of the pancreas, Pancreatitis ORPHA:370348
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Glycogen Storage Disease Ia
Hepatomegaly, Gout, Hepatocellular carcinoma, Pancreatitis OMIM:232200
Peritonitis, Pustule, Nephritis, Endocarditis, Pericarditis, Splenic abscess, Acute infectious pn... ORPHA:73263
Igg4-Related Pachymeningitis
Lymphadenitis, Pancreatitis, Sinusitis, Nephritis, Parotitis ORPHA:449427
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Thyroiditis, Hepatocellular carcinoma, Hepatocellular adenom... ORPHA:79259
Glycogen Storage Disease Ib
Hepatomegaly, Gout, Hepatocellular carcinoma, Pancreatitis OMIM:232220
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Erythroderma, Colitis, Portal fibrosis, Chronic hepatitis, ... ORPHA:3260
Pauci-Immune Glomerulonephritis
Scleritis, Arteritis, Glomerulonephritis, Tubulointerstitial nephritis, Pancreatitis, Crescentic ... ORPHA:93126
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Pericarditis, Increased inflammatory response, Chronic otitis media, Infl... ORPHA:900
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Primary Parathyroid Hyperplasia
Primary hyperparathyroidism, Pancreatitis ORPHA:99878
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Jaundice, Lipid accumulation in hepatocytes, Acute pancreatitis ORPHA:20
Igg4-Related Ophthalmic Disease
Prostatitis, Thyroiditis, Orchitis, Cholangitis, Keratitis, Pancreatitis, Sinusitis, Retroperiton... ORPHA:449563
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Pancreatitis, Inflammatory abnormality of the skin ORPHA:565612
Familial Adenomatous Polyposis
Thyroiditis, Hypothyroidism, Biliary tract obstruction, Pancreatitis, Neoplasm of the gallbladder... ORPHA:733
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Pancreatitis ORPHA:90038
Hypothyroidism, Hypoparathyroidism, Recurrent pancreatitis ORPHA:550
Seckel Syndrome 10
Hepatic steatosis, Elevated circulating follicle stimulating hormone level, Elevated circulating ... OMIM:617253
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis ORPHA:537
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:99880
Parathyroid Carcinoma
Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:143
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:222700
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pneumonia, Septic arthritis, Pancreatitis, Myocarditis ORPHA:544482
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hepatic steatosis, Acute pancreatitis OMIM:151660
Visceral Myopathy 1
Pancreatitis OMIM:155310
Lysinuric Protein Intolerance
Cirrhosis, Membranous nephropathy, Hepatomegaly, Glomerulonephritis, Tubulointerstitial nephritis... ORPHA:470
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hepatomegaly, Gout, Hepatoblastoma OMIM:232240
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly OMIM:269700
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
Scorpion Envenomation
Acute pancreatitis, Hyperhidrosis, Myocarditis ORPHA:466677
Neutral Lipid Storage Myopathy
Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Cholecystitis ORPHA:98908
Alström Syndrome
Cirrhosis, Decreased circulating T4 level, Hepatic steatosis, Recurrent sinusitis, Abnormal liver... 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.

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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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