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Gene: Xrcc4 MGI:1333799

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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:
X-ray repair complementing defective repair in Chinese hamster cells 4
Synonyms:
2310057B22Rik

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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 Xrcc4 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 Xrcc4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Disproportionate short-limb short stature, Hypothyroidism, Short stature, Diabetes mellit... OMIM:616541
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182

The table below shows human diseases predicted to be associated to Xrcc4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Periventricular heterotopia OMIM:300624
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
N Syndrome
Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Immunodeficiency 54
Chromosome breakage OMIM:609981
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation ORPHA:563609
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Chromosomal breakage induced by crosslinking agents OMIM:609053
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus OMIM:214110
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:603467
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227646
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Growth delay, Leukopenia,... OMIM:612541
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Short stature,... OMIM:208900
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Short stature, Splenome... ORPHA:84064
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hypoplasia of the thymus, Hashimoto thyroiditis, Intrauterine growth... ORPHA:436252
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Partial agenesis of the corpus callosum ORPHA:33364
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Cutis Laxa, Autosomal Recessive, Type Ic
Growth delay, Adrenal hypoplasia, Hypoplasia of the thymus, Accessory spleen OMIM:613177
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Hypothy... ORPHA:567
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, A... ORPHA:1896
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus ORPHA:861
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Short stature, Parathyroid hypo... OMIM:188400
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hypoplasia of the thymus, Short stature, Agenesis of corpus c... OMIM:264090
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi... OMIM:618223
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Abnormality of chromosome stability ORPHA:647
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Fanconi Anemia
Abnormality of chromosome stability, Patent ductus arteriosus ORPHA:84
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Proteus Syndrome
Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm ... ORPHA:744
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Disproportionate short-limb short stature, Hypothyroidism, Short stature, Diabetes mellit... OMIM:616541
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182

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 Xrcc4

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 Xrcc4.

No publications found that use IMPC mice or data for Xrcc4.

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MGI Allele Allele Type Produced
Xrcc4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Xrcc4em1(IMPC)Ccpcz Exon Deletion Mice

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