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Gene: Cdh11 MGI:99217

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Gene Summary

Name:
cadherin 11
Synonyms:
Cad11,  osteoblast-cadherin,  OB-cadherin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Cdh11em1(IMPC)Mbp HOM Early adult 1.63×10-12
abnormal head size Cdh11em1(IMPC)Mbp HOM Early adult 3.75×10-05
hyperactivity Cdh11em1(IMPC)Mbp HOM   Early adult 5.26×10-08
decreased grip strength Cdh11em1(IMPC)Mbp HOM   Early adult 1.08×10-06
abnormal behavior Cdh11em1(IMPC)Mbp HOM Early adult 1.99×10-12
abnormal snout morphology Cdh11em1(IMPC)Mbp HOM Early adult 1.47×10-09
abnormal spleen morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Cdh11em1(IMPC)Mbp HOM Early adult 3.19×10-06
abnormal liver morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Cdh11em1(IMPC)Mbp HOM Early adult 2.70×10-12
decreased body length Cdh11em1(IMPC)Mbp HOM Early adult 3.12×10-09
enlarged kidney Cdh11em1(IMPC)Mbp HOM Early adult 0.00
small testis Cdh11em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Cdh11em1(IMPC)Mbp HOM Early adult 0.00
small liver Cdh11em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

52 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Human diseases caused by Cdh11 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 Cdh11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Teebi Hypertelorism Syndrome 2
Attention deficit hyperactivity disorder, Short nose, Hypospadias OMIM:619736
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bilateral cryptorchidism, Wide nasal bridge OMIM:211380
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Absent nipple, Ureteral stenosis, Microcephaly, Bladder exstrophy, Micro... ORPHA:1299

The table below shows human diseases predicted to be associated to Cdh11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase concentration, Tu... OMIM:619902
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Meckel Syndrome, Type 8
Short nose, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, Hyperechogenic kidneys, A... OMIM:613885
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal in... ORPHA:731
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda... OMIM:613313
Tyrosinemia, Type I
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit... OMIM:276700
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormality of the kidney, Lymphadenopath... ORPHA:168569
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinin... ORPHA:449395
Diaphanospondylodysostosis
Short nose, Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Ho... OMIM:608022
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Increased blood urea nit... ORPHA:251004
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal... OMIM:261600
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fib... OMIM:200995
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232200
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitia... ORPHA:79259
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Increased circulating iron concentration, Sple... OMIM:602390
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Short nose, Periportal fibrosis, Hypoplasia of the o... ORPHA:79328
Babesiosis
Anorexia, Jaundice, Hepatomegaly, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Renal i... ORPHA:108
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Wide nasal bridge, Hyperp... OMIM:618188
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... ORPHA:247585
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral ref... OMIM:130650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Leukopenia,... ORPHA:505248
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Beta-Thalassemia
Irritability, Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytop... ORPHA:848
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr... OMIM:612651
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Erectile dysfunction, Hepatocellular ca... ORPHA:465508
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Renal amyloi... OMIM:105200
Ogden Syndrome
Enlarged kidney, Microcephaly, Dysphagia, Cardiomegaly, Irritability, Jaundice, Polycystic kidney... OMIM:300855
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Helsmoortel-Van Der Aa Syndrome
Irritability, Enlarged kidney, Decreased response to growth hormone stimulation test, Short nose,... OMIM:615873
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... ORPHA:116
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Precocious puberty, Microcephaly, M... ORPHA:3306
Gaucher Disease Type 1
Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anor... ORPHA:77259
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Immunodeficiency 27A
Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:209950
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr... OMIM:313200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Microcephaly, Attention defi... OMIM:619827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Ren... ORPHA:79312
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iij
Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, M... OMIM:613489
Leprechaunism
Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hyperinsulinemia, Hypokalemia, Long penis, H... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen... ORPHA:507
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Beta-Thalassemia Intermedia
Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy... ORPHA:231222
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Caroli Disease
Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal... ORPHA:53035
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno... OMIM:252500
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil... OMIM:602347
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Increased circulating T4 concentration, Jaundice, Hepatomegaly, Elevate... ORPHA:525731
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundi... OMIM:267700
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In... ORPHA:100924
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Hypothyroidism, Sidero... OMIM:222300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Aggr... OMIM:252920
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Depression, Compulsive behaviors, Elevated circulating c... OMIM:300842
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat... ORPHA:264580
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port... ORPHA:824
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Splenomegaly, Hypogona... OMIM:201100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni... OMIM:603553
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi... ORPHA:231226
Argininemia
Anorexia, Irritability, Hepatomegaly, Portal fibrosis, Oroticaciduria, Reduced erythrocyte argina... OMIM:207800
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol... ORPHA:8
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre... ORPHA:1655
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis... OMIM:235255
Aarskog-Scott Syndrome
Delayed puberty, Short nose, Bilateral cryptorchidism, Elevated circulating follicle stimulating ... OMIM:305400
Rauch-Steindl Syndrome
Hepatomegaly, Hyperactivity, Microcephaly, Exocrine pancreatic insufficiency, Hyperechogenic kidn... OMIM:619695
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Hypothyroidism, Renal agenesis... OMIM:618440
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se... ORPHA:79083
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hyperactivity, Low frustration tolerance, Microphallus, Motor stereotypy, Small scrotu... OMIM:300486
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati... ORPHA:79240
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Lesch-Nyhan Syndrome
Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious... OMIM:300322
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Nephroblastom... OMIM:312870
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone ... OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Long nose, Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insu... ORPHA:85327
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi... OMIM:611881
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microcep... ORPHA:294
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-b... OMIM:277900
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre... OMIM:610199
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Reticulocytosis, Microcephaly, Bone marr... ORPHA:699
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:235555
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc... ORPHA:457077
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged ... ORPHA:744
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevate... OMIM:269700
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Dys... OMIM:219800
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic... OMIM:608594
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Tuberous Sclerosis Complex
Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid adenoma, Stage 5 chr... ORPHA:805
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ... OMIM:612541
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hyperactivity, Bifid scrotum, Microcephaly, Splenomegaly, Small scrotu... OMIM:270400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Microcephaly, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Nephrolithiasis, Oligomenorrhea,... OMIM:219090
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Microcephaly, Renal hypoplasia, Hyp... OMIM:617913
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease... ORPHA:77293
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co... OMIM:300972
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Increased total iron binding capacity, Elevated circulating hepatic trans... ORPHA:309854
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Attention deficit hyperactivity di... OMIM:614294
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... OMIM:249100
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... OMIM:619991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropic hypogonadism... OMIM:157640
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Polycystic kidney dysplasia, Hypoplasia... ORPHA:84064
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Brucellosis
Anorexia, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive p... ORPHA:1304
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital... OMIM:620376
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Nephrotic syndrome, Nephrocalci... ORPHA:342
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Crimean-Congo Hemorrhagic Fever
Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A... ORPHA:99827
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Impotence, Aggressive behavior, Decrease... ORPHA:273
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Secondary microcephaly, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperact... ORPHA:353281
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Renal dysplasia, Hypoplasia of t... OMIM:188400
Teebi Hypertelorism Syndrome 2
Attention deficit hyperactivity disorder, Short nose, Hypospadias OMIM:619736
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, E... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, E... ORPHA:353277
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Primary hypothyroidism, Ascites, Microcephaly, Urethrovaginal fistula, Sple... OMIM:243800
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati... ORPHA:64
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bilateral cryptorchidism, Wide nasal bridge OMIM:211380
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Absent nipple, Ureteral stenosis, Microcephaly, Bladder exstrophy, Micro... ORPHA:1299

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.

Phenotype Allele Zygosity Sex Life Stage
Ear - MPATH pathological process term inflammation Cdh11em1(IMPC)Mbp HOM Early adult
Nasal cavity - MPATH pathological process term developmental dysplasia Cdh11em1(IMPC)Mbp HOM Early adult
Nasal cavity - MPATH pathological process term hypoplasia Cdh11em1(IMPC)Mbp HOM Early adult
Ear - MPATH pathological process term fibrosis Cdh11em1(IMPC)Mbp HOM Early adult
Ear - MPATH pathological process term chronic inflammation Cdh11em1(IMPC)Mbp HOM Early adult
Nasal cavity - MPATH pathological process term dysplasia Cdh11em1(IMPC)Mbp HOM Early adult

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 Cdh11.

No publications found that use IMPC mice or data for Cdh11.

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MGI Allele Allele Type Produced
Cdh11em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cdh11tm269911(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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