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Gene: Cdh1 MGI:88354

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Gene Summary

Name:
cadherin 1
Synonyms:
uvomorulin,  L-CAM,  E-cadherin,  E-cad,  UM,  Ecad

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
preweaning lethality, complete penetrance Cdh1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased body weight Cdh1tm1a(EUCOMM)Wtsi HET Early adult 1.43×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Cdh1tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Cdh1tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Cdh1tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Cdh1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Cdh1tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI

View all 153 images

Human diseases caused by Cdh1 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 Cdh1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Recurrent otitis media, Oral-pharyngeal dysphagia ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis OMIM:137215
Ovarian Cancer
OMIM:167000
Prostate Cancer
OMIM:176807
Breast Cancer
OMIM:114480
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997
Endometrial Cancer
OMIM:608089

The table below shows human diseases predicted to be associated to Cdh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Peritonitis, Recurrent meningococcal disease OMIM:615561
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, Recurrent... OMIM:613501
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:616873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial ... OMIM:612692
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:613493
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Re... ORPHA:275
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:613502
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Peripheral Cone Dystrophy
Pallor OMIM:609021
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:240500
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Diarrhea, Sepsis, Opportunistic infection, Invasive fungal infection, Recur... ORPHA:83471
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:607594
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutane... ORPHA:276
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... OMIM:243700
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent gram-negative bacterial infections... OMIM:116920
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Candida esophagitis, Intermittent diarrhea, Recurrent viral infec... OMIM:620632
Optic Atrophy 1
Pallor OMIM:165500
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Specific Granule Deficiency 2
Intractable diarrhea, Sepsis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemoglobin D Disease
Pallor ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti... OMIM:307200
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent herpes, Recurrent staphylococcal... ORPHA:331235
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Recurrent viral infections, Recurrent aphthous stomatitis, Recurrent infection of the g... ORPHA:486
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Nephronophthisis 15
Obesity OMIM:614845
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... OMIM:616005
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Retinitis Pigmentosa 51
Pallor OMIM:613464
Immunodeficiency 67
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent aphthous ... OMIM:615468
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Diarrhea, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent... OMIM:308230
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... OMIM:606367
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Dravet Syndrome
Pallor ORPHA:33069
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Protracted diarrhea, Recurrent fung... ORPHA:331206
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Congenital Heart Block
Pallor ORPHA:60041
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Diarrhea, Recurrent viral infections OMIM:603554
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Irida Syndrome
Pallor ORPHA:209981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... OMIM:613179
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Cold Agglutinin Disease
Pallor ORPHA:56425
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Myelofibrosis
Purpura, Pallor OMIM:254450
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Gastroesophageal reflux, Sepsis, Recurrent respi... ORPHA:443811
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Sever... OMIM:615816
Mirage Syndrome
Gastroesophageal reflux, Sepsis, Recurrent urinary tract infections, Achalasia, Recurrent bacteri... OMIM:617053
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Diarrhea ORPHA:36412
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Recurrent viral infections, Gastroesophageal reflux, Recurrent urinary tract infections... ORPHA:221139
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
American Trypanosomiasis
Pallor ORPHA:3386
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Recurrent viral infections, Paralytic ileus, Recurrent fungal infections, Recurrent... OMIM:620565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Recurrent viral infections, Chronic mucocutaneous candidiasis, Rec... OMIM:102700
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Chronic oral candidiasis, R... OMIM:608233
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Cystic Fibrosis
Gastroesophageal reflux, Recurrent respiratory infections, Recurrent Burkholderia cepacia infecti... ORPHA:586
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Senior-Loken Syndrome 8
Pallor OMIM:616307
Elliptocytosis 1
Pallor OMIM:611804
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Infantile Systemic Hyalinosis
Steatorrhea, Chronic diarrhea, Recurrent bacterial infections ORPHA:2176
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Letterer-Siwe Disease
Pallor OMIM:246400
Narcolepsy 7
Obesity OMIM:614250
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hematochezia, Inflammation of the large intestine, Chronic diarrhea OMIM:615895
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Parotitis, Recurrent b... ORPHA:51636
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... OMIM:612541
Chromomycosis
Recurrent bacterial infections ORPHA:182
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Secretory diarrhea, Sepsis, Severe cytomegaloviru... OMIM:619573
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Adenohypophysitis
Pallor ORPHA:95512
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent respiratory infections, Recurrent bacterial infecti... ORPHA:167
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fungal infections, Recur... OMIM:242840
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Panhypophysitis
Pallor ORPHA:95513
Aregenerative Anemia
Pallor ORPHA:101096
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Fumarase Deficiency
Pallor OMIM:606812
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Immunodeficiency 47
Exocrine pancreatic insufficiency, Recurrent infections, Chronic diarrhea, Recurrent bacterial in... OMIM:300972
Prolactinoma
Pallor ORPHA:2965
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Diarrhea, Gastroesophageal reflux, Recurrent pneumo... OMIM:147060
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Insulinoma
Increased body weight ORPHA:97279
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections OMIM:214500
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine OMIM:232220
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Diamond-Blackfan Anemia 1
Spina bifida occulta, Pallor OMIM:105650
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Exocrine pancreatic insufficiency, Recurrent bacterial infect... ORPHA:811
Leukocyte Adhesion Deficiency
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Recurrent aphthous stomatitis,... ORPHA:2968
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Neuroblastoma
Anemic pallor ORPHA:635
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Enterocolitis, Recurrent bacterial infections, Ulc... ORPHA:79259
Esophageal Atresia
Pallor ORPHA:1199
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Retinitis Pigmentosa 74
Obesity OMIM:616562
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Degcags Syndrome
Pallor OMIM:619488
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Diamond-Blackfan Anemia
Pallor ORPHA:124
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Lysinuric Protein Intolerance
Steatorrhea, Vomiting, Diarrhea, Recurrent bacterial infections ORPHA:470
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Von Hippel-Lindau Disease
Pallor ORPHA:892
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Goodpasture Syndrome
Pallor OMIM:233450
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Dysphagia ORPHA:642
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359
Cleft Lip/Palate
Recurrent otitis media, Oral-pharyngeal dysphagia ORPHA:199306
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis OMIM:137215
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997
Ovarian Cancer
OMIM:167000
Endometrial Cancer
OMIM:608089
Prostate Cancer
OMIM:176807
Breast Cancer
OMIM:114480

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdh1

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 Cdh1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
E-Cadherin restricts mast cell degranulation in mice. European journal of immunology (October 2021) Cdh1tm1a(EUCOMM)Wtsi 34606636
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdh19tm1a(EUCOMM)Wtsi PMC7263671
Serotonin (5-HT) neuron-specific inactivation of Cadherin-13 impacts 5-HT system formation and cognitive function. Neuropharmacology (February 2020) Cdh13tm1c(EUCOMM)Hmgu 32113967
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)