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
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
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
N Syndrome
Neoplasm, Leukemia, Abnormality of chromosome stability OMIM:310465
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Leukemia OMIM:614082
Bazex Syndrome
Neoplasm, Liposarcoma, Lung adenocarcinoma ORPHA:166113
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Bloom Syndrome
Azoospermia, Abnormality of chromosome stability, Bronchiectasis, Recurrent upper respiratory tra... OMIM:210900
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory infections, Chromosome breakage OMIM:609981
Ataxia-Telangiectasia
Neoplasm, Abnormality of chromosome stability, Recurrent respiratory infections, Elevated hepatic... ORPHA:100
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Anteverted nares, Breast carcinoma, Prominent nasal bridge, Chromosome breakage OMIM:617883
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma OMIM:610832
Fanconi Anemia, Complementation Group Q
Biliary atresia, Chromosome breakage OMIM:615272
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Lig4 Syndrome
Abnormality of chromosome stability, Lymphoma, Hepatomegaly, Wide nasal bridge, Acute leukemia ORPHA:99812
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Prominent nasal bridge OMIM:619060
Dermatomyositis
Gastrointestinal stroma tumor, Pulmonary fibrosis, Lymphoma, Neoplasm, Abnormal pulmonary interst... ORPHA:221
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Wide nasal bridge, Tracheoesophageal fistula, Chromosome bre... OMIM:614083
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Sinusitis ORPHA:908
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Glioma, Recurrent respiratory infections, B-cell lymphoma, N... ORPHA:647
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Icf Syndrome
Abnormality of chromosome stability, Recurrent respiratory infections, Depressed nasal bridge ORPHA:2268
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Tracheoesophageal fistula, Abnormal lung lobation OMIM:300514
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Leukemia, Prolonged G2 phase of cell cycle, ... OMIM:227646
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Thymoma, Small cell lung carcinoma ORPHA:99889
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Wide nasal bridge, Hepatomegaly, Tracheal stenosis, Antevert... ORPHA:175
Riddle Syndrome
Chronic sinusitis, Pulmonary fibrosis, Recurrent sinusitis, Pneumonia, Abnormal pulmonary interst... ORPHA:420741
Fanconi Anemia
Myelodysplasia, Azoospermia, Abnormality of chromosome stability, Choanal atresia, Neoplasm, Abno... ORPHA:84
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Pneumonia OMIM:603467
Meningioma
Neurofibromas, Intracranial meningioma, Spinal meningioma, Chromosomal breakage induced by ionizi... ORPHA:2495
Sotos Syndrome
Hemangioma, Sacrococcygeal teratoma, Neuroblastoma, Neoplasm, Pulmonary bleb, Prolonged neonatal ... ORPHA:821
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
OMIM:615156
Seckel Syndrome 8
OMIM:615807

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.

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MGI Allele Allele Type Produced
Dna2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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