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Gene: Cdh1 MGI:88354

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Gene Summary

Name:
cadherin 1
Synonyms:
L-CAM,  uvomorulin,  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
increased body weight Cdh1tm1a(EUCOMM)Wtsi HET Early adult 1.43×10-06
preweaning lethality, complete penetrance Cdh1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Endometrial Cancer
OMIM:608089
Blepharo-Cheilo-Odontic Syndrome
ORPHA:1997

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, BCGosis, Pulmonary tuberculosis 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
Overweight, Obesity OMIM:613375
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
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
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Meningitis, 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
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... OMIM:613501
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Summitt Syndrome
Obesity OMIM:272350
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, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... OMIM:613493
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
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
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Recurrent ... OMIM:612692
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... OMIM:240500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
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
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Peripheral Cone Dystrophy
Pallor OMIM:609021
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent viral i... OMIM:243700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... ORPHA:83471
Immunodeficiency, Common Variable, 1
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... OMIM:607594
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... ORPHA:2688
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Diarrhea, Recurre... ORPHA:572
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Diarrhea, Recu... ORPHA:276
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Adiposis Dolorosa
Obesity OMIM:103200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Recurrent mycobacterial infections, Chronic diarrhea, Severe viral inf... ORPHA:98813
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Breath-Holding Spells
Pallor OMIM:607578
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... OMIM:116920
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... OMIM:617475
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemoglobin D Disease
Pallor ORPHA:90039
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Recurrent bacterial infe... OMIM:601495
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... ORPHA:486
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... OMIM:147060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Recurrent urinary tract infections, Recurrent respiratory in... ORPHA:183675
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Nephronophthisis 15
Obesity OMIM:614845
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Chronic diarrhea, Recurrent upper respiratory tract infections, Persisten... OMIM:616005
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
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
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent aphthous ... OMIM:615468
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Stomatitis, Recurrent... OMIM:308230
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... OMIM:606367
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... ORPHA:331206
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Dravet Syndrome
Pallor ORPHA:33069
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Congenital Heart Block
Pallor ORPHA:60041
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Omenn Syndrome
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... OMIM:613179
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Irida Syndrome
Pallor ORPHA:209981
Myelofibrosis
Pallor, Purpura OMIM:254450
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Cold Agglutinin Disease
Pallor ORPHA:56425
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Pgm3-Cdg
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... ORPHA:443811
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Retinitis Pigmentosa 75
Pallor OMIM:617023
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Mirage Syndrome
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... OMIM:617053
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Diarrhea, Meningitis ORPHA:36412
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... ORPHA:221139
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
American Trypanosomiasis
Pallor ORPHA:3386
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneou... OMIM:102700
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Narcolepsy 7
Obesity OMIM:614250
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent bacterial infections, Gastroesophageal reflux, Recurrent abscess f... OMIM:608233
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Elliptocytosis 1
Pallor OMIM:611804
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Meconium ileus, Recurrent Bur... ORPHA:586
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... ORPHA:48435
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Chronic diarrhea, Steatorrhea ORPHA:2176
Letterer-Siwe Disease
Pallor OMIM:246400
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Recurrent bacterial infections, Inflammation of the large intestine, Chronic diarrhea OMIM:615895
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Chromomycosis
Recurrent bacterial infections ORPHA:182
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... ORPHA:167
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Adenohypophysitis
Pallor ORPHA:95512
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Secretory diarrhea, Se... OMIM:619573
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Aregenerative Anemia
Pallor ORPHA:101096
Panhypophysitis
Pallor ORPHA:95513
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Immunodeficiency 47
Recurrent bacterial infections, Chronic diarrhea, Recurrent infections, Exocrine pancreatic insuf... OMIM:300972
Prolactinoma
Pallor ORPHA:2965
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Fumarase Deficiency
Pallor OMIM:606812
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections OMIM:214500
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine OMIM:232220
Insulinoma
Increased body weight ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Recurrent staphylococcal infections, Peritonitis, BCGosis, Re... ORPHA:2968
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Diamond-Blackfan Anemia 1
Spina bifida occulta, Pallor OMIM:105650
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Recurrent bacterial infections, Steatorrhea, Exocrine pancrea... ORPHA:811
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... 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
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
Degcags Syndrome
Pallor OMIM:619488
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
Abdominal obesity, Failure to thrive, Increased body weight 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
Abdominal obesity, Increased body weight ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Lysinuric Protein Intolerance
Recurrent bacterial infections, Diarrhea, Vomiting, Steatorrhea 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Ulcerative colitis ORPHA:171
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Dysphagia ORPHA:642
Carney Complex
Abdominal obesity, Increased body weight, Tall stature 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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdh19tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdh1tm1a(EUCOMM)Wtsi Cdh19tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdh1tm1a(EUCOMM)Wtsi Cdh19tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdh19tm1a(EUCOMM)Wtsi PMC5827107
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Cdh1tm1a(EUCOMM)Wtsi PMC4631787

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MGI Allele Allele Type Produced
Cdh1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdh1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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