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Gene: Dclre1a MGI:1930042

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DNA cross-link repair 1A
Synonyms:
SNM1,  2810043H12Rik,  mSNM1,  SMN1a

Order Alleles

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dclre1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dclre1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Chronic infection, Neoplasm, Melanoma, Neuroblastoma... ORPHA:1183
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Verruca... OMIM:613860
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Ollier Disease
Precocious puberty, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatos... ORPHA:296
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Myelodysplasia OMIM:610738
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Acute lymphoblastic leukemia, Recurr... OMIM:616873
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 84
Recurrent bacterial infections, B-cell lymphoma, Persistent EBV viremia OMIM:619437
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N... ORPHA:83469
Whim Syndrome 1
Recurrent upper respiratory tract infections, Verrucae, Abnormal morphology of female internal ge... OMIM:193670
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Verrucae, Recurrent viral infections, Recurrent pne... OMIM:614868
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Abnormal endometrium mor... ORPHA:314478
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... ORPHA:217253
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Myelodysplasia, Rec... OMIM:608184
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Lymphoma, Recurrent otitis media, Neoplasm, Recurrent bronchitis, Recurrent ... OMIM:240500
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Acute monocytic leukemia OMIM:202700
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Renal neoplasm, Sarcoma, Neop... ORPHA:662
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Streak ovary, Elevated circulat... OMIM:615723
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Desmoid Tumor
Neoplasm of the skin, Sepsis, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of the breast,... OMIM:158350
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Myelodysplasia, Recurrent infection of the gastrointestinal tract, Re... ORPHA:486
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Verrucae, Recurrent viral infections, Recurrent gastroenterit... ORPHA:275
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... OMIM:243700
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str... ORPHA:44890
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma OMIM:273300
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Chronic mucocutaneous candidiasis, Lymphoma, Lymphoproliferative disorder, Severe recurre... ORPHA:276
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Candida esophagitis, Verrucae, Recurrent viral infections OMIM:620632
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Neoplasm, Recurrent funga... ORPHA:169090
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Myelodysplasia OMIM:617475
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic lymphatic leukemia,... OMIM:616005
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Brain ne... ORPHA:370348
Pyomyositis
Recurrent infections, Testicular teratoma, Sepsis, Recurrent cutaneous abscess formation ORPHA:764
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Selective Igm Deficiency
Stomach cancer, Recurrent bronchitis, Meningitis, Multiple myeloma, Thyroid carcinoma, Recurrent ... ORPHA:331235
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... OMIM:613501
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:613493
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... ORPHA:183675
Familial Pancreatic Carcinoma
Colon cancer, Pancreatic adenocarcinoma, Ovarian carcinoma, Melanoma, Neoplasm of the liver, Brea... ORPHA:1333
Tuberous Sclerosis 2
Precocious puberty, Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphan... OMIM:613254
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Teratoma, Pineal
Teratoma OMIM:273120
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Fibroma OMIM:619750
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:613502
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Crouzon Syndrome
Dysgerminoma OMIM:123500
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cardiac fibroma, Cryptorchidism, Hypogonadotropic hypogona... ORPHA:377
Chromomycosis
Recurrent bacterial infections, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Meige Disease
Recurrent bacterial skin infections, Angiosarcoma ORPHA:90186
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Aplasia of the thymus, Micropenis, Sarcoma ORPHA:96123
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections OMIM:612692
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... OMIM:610755
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... ORPHA:98813
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... ORPHA:201
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Lymphoma, Recurrent uri... OMIM:613179
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Mirage Syndrome
Sepsis, Microphallus, Recurrent urinary tract infections, Decreased testicular size, Cryptorchidi... OMIM:617053
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... OMIM:607594
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Fibrosarcoma ORPHA:33001
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Adrenocorticotropic hormone excess, Ileal adenocarcinoma, Appendicea... ORPHA:100079
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Whim Syndrome
Recurrent upper respiratory tract infections, Verrucae, Recurrent pneumonia, Sepsis, Cutaneous me... ORPHA:51636
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Hodgk... OMIM:615816
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Elevated cir... ORPHA:276152
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Lymphoma ORPHA:36412
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Apert Syndrome
Ovarian neoplasm ORPHA:87
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Lymphoma, Recurrent respiratory infectio... ORPHA:443811
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, B-cell lympho... OMIM:102700
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Recurrent viral infections OMIM:618048
Proteus Syndrome
Rib exostoses, Long penis, Thymus hyperplasia, Capillary hemangioma, Meningioma, Exostosis of the... ORPHA:744
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Hypogonadism, Neoplasm of the thyr... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... OMIM:606367
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... OMIM:116920
Aicardi Syndrome
Precocious puberty, Recurrent pneumonia, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatobla... OMIM:304050
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial... OMIM:308230
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Pancreatic hypoplasia, Hypopituitarism, Decreased response to... ORPHA:811
Endometrial Cancer
Endometrial carcinoma OMIM:608089
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
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Steinert Myotonic Dystrophy
Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Decreased response to growth hormone sti... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... ORPHA:331206
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Hodgkin lymphoma, Severe cytomegalovirus infection, Recurrent... OMIM:619573
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Recu... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism OMIM:244460
Omenn Syndrome
Recurrent bacterial infections, Hypoplasia of the thymus, Recurrent fungal infections, Recurrent ... OMIM:603554
Glycogen Storage Disease Ib
Recurrent bacterial infections, Pancreatic fibrosis, Hepatocellular carcinoma OMIM:232220
Immunodeficiency 67
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Leukocyte Adhesion Deficiency
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Vaginitis, BCGosis, Acute myel... ORPHA:2968
Duplication Of The Pituitary Gland
Teratoma, Abnormal pituitary gland morphology ORPHA:314621
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Polycystic ovaries ORPHA:2176
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Cryptor... OMIM:612541
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... OMIM:608233
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypoplastic labia minora, Teratoma, Facial hemangioma, Hepatoblastoma, Hypoplastic... OMIM:269150
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Aplasia of the eccrine sweat glands, Rec... OMIM:300291
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent respiratory infections, Recurrent bacterial infecti... ORPHA:167
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Penile hypospadias, Recurrent fung... OMIM:242840
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:620565
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Hepatocellular adenoma, Polycystic ovaries, Hepatocellular carcinoma ORPHA:79259
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Ependymoma, Streak ovary, Teratoma, Nephroblastoma, Facial... ORPHA:798
Patent Urachus
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections ORPHA:431341
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections OMIM:214500
Sickle Cell Disease
Recurrent bacterial infections, Cholelithiasis OMIM:603903
Cystic Fibrosis
Absent vas deferens, Recurrent respiratory infections, Recurrent Aspergillus infections, Recurren... ORPHA:586
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal neurofibroma... ORPHA:363700
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Cryptorchidism, Recurrent respiratory infec... ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased response to growth hormone stimulation test ORPHA:470
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections ORPHA:642

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 Dclre1a

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 Dclre1a.

No publications found that use IMPC mice or data for Dclre1a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dclre1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dclre1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dclre1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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