Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DNA replication helicase/nuclease 2
Synonyms:
E130315B21Rik,  Dna2l

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Dna2 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 Dna2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Seckel Syndrome
ORPHA:808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
OMIM:615156
Seckel Syndrome 8
OMIM:615807

The table below shows human diseases predicted to be associated to Dna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
N Syndrome
Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormality of chromosome stabil... ORPHA:100
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder, Recurrent respiratory infections, Hepatomegaly OMIM:609981
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Acute leukemia ORPHA:99812
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Recurrent upp... OMIM:210900
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... OMIM:600901
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... OMIM:227650
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Dermatomyositis
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... ORPHA:221
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group C
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... OMIM:227645
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Cryptorchidism, Chromosome breakage OMIM:617052
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... ORPHA:647
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... OMIM:227646
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Abnormal lung lobation OMIM:300514
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group F
Cryptorchidism, Pneumonia, Chromosomal breakage induced by crosslinking agents OMIM:603467
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Chromosom... ORPHA:420741
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Fanconi Anemia
Abnormality of chromosome stability, Myelodysplasia, Cryptorchidism, Azoospermia, Abnormality of ... ORPHA:84
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability ORPHA:175
Meningioma
Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... ORPHA:2495
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... ORPHA:99889
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Cryptorchidism, Small cell lung carcinoma, Hydrocele testis... ORPHA:821
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Seckel Syndrome 8
OMIM:615807
Seckel Syndrome
ORPHA:808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
OMIM:615156

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 Dna2

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 Dna2.

No publications found that use IMPC mice or data for Dna2.

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
Dna2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dna2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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