Manteia - Molecule gene

ENSMUSG00000031536

Mus musculus

Features

Gene ID:	ENSMUSG00000031536

Biological name :	Polb

Synonyms :	Polb / polymerase (DNA directed), beta / Q8K409

Possible biological names infered from orthology :	DNA polymerase beta / P06746

Species:	Mus musculus

Chr. number:	8
Strand:	-1
Band:	A2
Gene start:	22628126
Gene end:	22653435

Corresponding Affymetrix probe sets:	10577544 (MoGene1.0st) 1425371_at (Mouse Genome 430 2.0 Array) 1434229_a_at (Mouse Genome 430 2.0 Array) 1434230_at (Mouse Genome 430 2.0 Array) 1439840_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000033938 Ensembl peptide - ENSMUSP00000148216 NCBI entrez gene - 18970 See in Manteia. MGI - MGI:97740 RefSeq - XM_011242126 RefSeq - NM_011130 RefSeq - XM_006509030 RefSeq - XM_011242125 RefSeq Peptide - NP_035260 swissprot - A0A1B0GT62 swissprot - Q8K409 Ensembl - ENSMUSG00000031536

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
polb	ENSDARG00000003749	Danio rerio
POLB	ENSG00000070501	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Poll / Q9QXE2 / polymerase (DNA directed), lambda / Q9UGP5* / DNA polymerase lambda*	ENSMUSG00000025218	34
Polm / Q9JIW4 / polymerase (DNA directed), mu / Q9NP87* / DNA polymerase mu*	ENSMUSG00000020474	24
Dntt / P09838 / DNA nucleotidylexotransferase / P04053*	ENSMUSG00000025014	24

Protein motifs (from Interpro)

Interpro ID	Name
IPR002008	DNA polymerase family X, beta-like
IPR002054	DNA-directed DNA polymerase X
IPR003583	Helix-hairpin-helix DNA-binding motif, class 1
IPR010996	DNA polymerase beta-like, N-terminal domain
IPR018944	DNA polymerase lambda, fingers domain
IPR019843	DNA polymerase family X, binding site
IPR022312	DNA polymerase family X
IPR027421	DNA polymerase lambda lyase domain superfamily
IPR028207	DNA polymerase beta, palm domain
IPR029398	DNA polymerase beta, thumb domain
IPR037160	DNA polymerase, thumb domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006260	DNA replication	IEA
biological_process	GO:0006281	DNA repair	IEA
biological_process	GO:0006284	base-excision repair	IEA
biological_process	GO:0006287	base-excision repair, gap-filling	IEA
biological_process	GO:0006290	pyrimidine dimer repair	IEA
biological_process	GO:0006915	apoptotic process	IMP
biological_process	GO:0006954	inflammatory response	IMP
biological_process	GO:0006974	cellular response to DNA damage stimulus	ISO
biological_process	GO:0007435	salivary gland morphogenesis	IMP
biological_process	GO:0007568	aging	IEA
biological_process	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP
biological_process	GO:0010332	response to gamma radiation	IEA
biological_process	GO:0016445	somatic diversification of immunoglobulins	IMP
biological_process	GO:0016446	somatic hypermutation of immunoglobulin genes	IMP
biological_process	GO:0045471	response to ethanol	IEA
biological_process	GO:0048535	lymph node development	IMP
biological_process	GO:0048536	spleen development	IMP
biological_process	GO:0048872	homeostasis of number of cells	IMP
biological_process	GO:0051402	neuron apoptotic process	IGI
biological_process	GO:0055093	response to hyperoxia	IEA
biological_process	GO:0071707	immunoglobulin heavy chain V-D-J recombination	IMP
biological_process	GO:0071897	DNA biosynthetic process	IEA
cellular_component	GO:0000795	synaptonemal complex	TAS
cellular_component	GO:0005634	nucleus	ISO
cellular_component	GO:0005737	cytoplasm	ISS
cellular_component	GO:0005874	microtubule	IEA
cellular_component	GO:0005876	spindle microtubule	IEA
cellular_component	GO:0032991	protein-containing complex	IEA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0003684	damaged DNA binding	IEA
molecular_function	GO:0003887	DNA-directed DNA polymerase activity	TAS
molecular_function	GO:0008017	microtubule binding	IEA
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0016779	nucleotidyltransferase activity	IEA
molecular_function	GO:0016829	lyase activity	ISO
molecular_function	GO:0019899	enzyme binding	IEA
molecular_function	GO:0034061	DNA polymerase activity	IEA
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

POLB-Dependent Long Patch Base Excision Repair

Resolution of AP sites via the multiple-nucleotide patch replacement pathway

Resolution of AP sites via the single-nucleotide replacement pathway

APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway

PCNA-Dependent Long Patch Base Excision Repair

Ub-specific processing proteases

Abasic sugar-phosphate removal via the single-nucleotide replacement pathway

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000282	abnormal atrial septum morphology	"abnormality in the wall between the atria of the heart, usually incomplete closure " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0000352	decreased cell proliferation	"less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0000640	adrenal gland hypoplasia	"underdeveloped endocrine glands located above the kidney and responsible for hormone and epinephrine secretion, resulting from reduced numbers of cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0000783	abnormal forebrain morphology	"malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0000788	abnormal cerebral cortex morphology	"malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0000841	abnormal hindbrain morphology	"malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0001015	small superior cervical ganglion	"reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:23882]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0001100	abnormal vagus ganglion morphology	"malformed group of sensory neuron cell bodies associated with the vagus nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0001102	small superior vagus ganglion	"reduced size of the upper ganglion of the vagus nerve located at the jugular foramen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0001177	atelectasis	"collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0001194	dermatitis	"inflammation of the skin" [J:65146]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0001247	dermal cysts	"abnormal membranous sacs appearing in the dermis" [J:53379]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0001575	cyanosis	"a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0001870	salivary gland inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the salivary gland" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0001961	abnormal reflex	"anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0002270	abnormal alveoli morphology	"any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0002359	abnormal spleen germinal center morphology	"anomalous structure or formation of the area of the spleen in which activated follicles are located" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology:ISBN 0-397-51047-0]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0002493	increased IgG	"greater than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0002743	glomerulonephritis	"glomerular disease characterized by diffuse inflammatory reaction that is not the acute response to infection of the kidneys" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0002951	small thyroid gland	"reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0003048	abnormal cervical vertebrae morphology	"malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0003077	abnormal cell cycle	"failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]	Show Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
MP:0003203	increased neuron apoptosis	"increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0003686	abnormal eye muscle morphology	"malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0003717	pallor	"an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0003865	lymph node inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the lymph nodes" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0003887	increased hepatocyte apoptosis	"increase in the number of hepatocytes undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0003984	embryonic growth retardation	"slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0004252	abnormal direction of looping morphogenesis	"deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0004269	abnormal optic cup morphology	"any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0004607	abnormal cervical atlas morphology	"any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0004613	fusion of vertebral arches	"improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0004666	absent stapedial artery	"absence of the small artery that passes through the ring of the stapes" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0004794	increased anti-nuclear antigen antibody level	"elevated level of antibodies to nuclear antigens present in the sera" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0004801	increased susceptibility to systemic lupus erythematosus	"greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0004815	abnormal somatic hypermutation frequency	"any anomaly in the high frequency of programmed mutation that occurs in the gene segments encoding the variable regions of antibodies during the differentiation of individual B lymphocytes into antibody producing plasma cells " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0005343	increased circulating aspartate transaminase level	"greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]	Show Allelic Composition: Xbp1^{tm1a(EUCOMM)Wtsi}/Xbp1⁺ Genetic Background: C57BL/6N-Xbp1^{tm1a(EUCOMM)Wtsi}/Ics
MP:0005632	decreased circulating aspartate transaminase level	"less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Xbp1^{tm1a(EUCOMM)Wtsi}/Xbp1⁺ Genetic Background: C57BL/6N-Xbp1^{tm1a(EUCOMM)Wtsi}/Ics
MP:0006203	eye hemorrhage	"bleeding into the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0006254	thin cerebral cortex	"decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0006408	dorsal root ganglion hypoplasia	"underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0008090	increased T-helper 2 cell number	"greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy" [CL:0000546, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0008128	abnormal brain internal capsule morphology	"any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0008177	increased germinal center B cell number	"greater number of rapidly cycling mature B cells which have downregulated IgD expression and exhibit high levels of binding by peanut agglutinin (PNA), and are involved in T-dependent immune responses; germinal center B cells are found typically in the germinal centers of lymph nodes and spleen" [CL:0000844, GO:0002314, ISBN:0781735149]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0008481	increased spleen germinal center number	"greater number of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs" [PMID:17495967]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0008491	dorsal root ganglion hyperplasia	"overdevelopment or increased size, usually due to a increased cell number, of a dorsal root ganglion or ganglia" [MESH:A08.340.390.340]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0008542	enlarged cervical lymph nodes	"increased size of the lymph nodes found near the neck and shoulders" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0008760	abnormal immunoglobulin heavy chain V(D)J recombination	"any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0008866	chromosomal instability	"abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:12446840]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0008922	abnormal cervical rib	"alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0008943	increased sensitivity to induced cell death	"decrease in the exposure level to an agent that is required to induce cessation of function at the cellular level" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0009322	increased splenocyte apoptosis	"increase in the number of spleen cells undergoing programmed cell death" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0009516	enlarged salivary gland	"increased size of the saliva-secreting glands of the oral cavity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Polb^tm1.1Jbsw/Polb⁺ Genetic Background: involves: 129/Sv * C57BL/6
MP:0009674	decreased birth weight	"reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0009796	abnormal base-excision repair	"any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase" [GO:0006284]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0009937	abnormal neuron differentiation	"abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0010169	decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	"a reduction in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149]	Show Allelic Composition: Xbp1^{tm1a(EUCOMM)Wtsi}/Xbp1⁺ Genetic Background: C57BL/6N-Xbp1^{tm1a(EUCOMM)Wtsi}/Ics
MP:0011087	complete neonatal lethality	"death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Ndn^tm1.1Mus/Ndn^tm1.1Mus Genetic Background: involves: 129S2/SvPas * C57BL/6J
MP:0011088	partial neonatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Gja1^tm7(Gja2)Kwi/Gja1⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0011101	partial prenatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Gja1^tm7(Gja2)Kwi/Gja1⁺ Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL
MP:0011368	increased kidney apoptosis	"increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0011704	decreased fibroblast proliferation	"reduction in the expansion rate of a fibroblast cell population by cell division" [MGI:csmith]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0013504	increased embryonic tissue cell apoptosis	"increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]	Show Allelic Composition: Polb^tm1.1Jbsw/Polb^tm1.1Jbsw Genetic Background: involves: 129/Sv * C57BL/6
MP:0013827	thin oculomotor nerve	"slender appearance of the third cranial nerve, which normally sends motor fibers to the levator muscles of the eyelid and to the superior rectus, inferior rectus, and inferior oblique muscles of the eye" [ISBN:0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013828	thin facial nerve	"a slender apperance of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013829	thin splanchnic nerve	"slender appearance of the major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord, which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses, and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia" [MESH:A08.800.050.050.800]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013834	thin hypoglossal nerve	"slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013836	abnormal hypoglossal nerve topology	"abnormal position of the hypoglossal nerve " [MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013841	abnormal lymphatic vessel topology	"abnormal position of one or more of the components of the network of lymphatic vessels which carries lymph around the body" [MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013848	subcutaneous edema	"accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013851	abnormal Wolffian duct topology	"aberrant postition of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [ISBN:0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013859	abnormal vitelline vein connection	"aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013875	trigeminal neuroma		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013928	thin motoric part of trigeminal nerve		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013952	retro-esophageal left subclavian artery		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013969	reduced sympathetic cervical ganglion size		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0013982	inverse situs of great intrathoracic arteries		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0014001	abnormal vertebral artery topology	"abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0014002	absent extracranial vertebral artery segment		Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi
MP:0014017	abnormal Wolffian duct connection	"aberrant attachment or incomplete connection of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) to the cloaca " [ISBN:0-683-40008-8]	Show Allelic Composition: Izumo1r^{tm2a(KOMP)Wtsi}/Izumo1r^{tm2a(KOMP)Wtsi} Genetic Background: C57BL/6N-Izumo1r^{tm2a(KOMP)Wtsi}/Wtsi

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000000751	Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*	/ reaction
ENSMUSG00000012483	Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*	/ reaction
ENSMUSG00000024742	Fen1 / flap structure-specific endonuclease 1 / P39748*	/ reaction / complex
ENSMUSG00000024854	Pold4 / Q9CWP8 / polymerase (DNA-directed), delta 4 / Q9HCU8* / AP003419.1* / DNA polymerase delta 4, accessory subunit*	/ reaction
ENSMUSG00000026496	Parp1 / poly (ADP-ribose) polymerase family, member 1 / P09874* / poly(ADP-ribose) polymerase 1*	/ complex / reaction
ENSMUSG00000032298	Neil1 / Q8K4Q6 / Endonuclease 8-like 1 / Q96FI4* / nei like DNA glycosylase 1*	/ complex / reaction
ENSMUSG00000051768	Xrcc1 / Q60596 / X-ray repair complementing defective repair in Chinese hamster cells 1 / P18887* / X-ray repair cross complementing 1*	/ complex / reaction
ENSMUSG00000035960	Apex1 / P28352 / DNA-(apurinic or apyrimidinic site) lyase DNA-(apurinic or apyrimidinic site) lyase, mitochondrial / P27695* / apurinic/apyrimidinic endodeoxyribonuclease 1*	/ complex / reaction
ENSMUSG00000056394	Lig1 / ligase I, DNA, ATP-dependent / P18858* / DNA ligase 1*	/ complex / reaction
ENSMUSG00000059263	Usp47 / Q8BY87 / ubiquitin specific peptidase 47 / Q96K76*	/ complex
ENSMUSG00000027342	Pcna / P17918 / proliferating cell nuclear antigen / P12004*	/ reaction
ENSMUSG00000038644	Pold1 / P52431 / polymerase (DNA directed), delta 1, catalytic subunit / P28340* / DNA polymerase delta 1, catalytic subunit*	/ reaction
ENSMUSG00000020471	Pold2 / O35654 / polymerase (DNA directed), delta 2, regulatory subunit / P49005* / DNA polymerase delta 2, accessory subunit*	/ reaction
ENSMUSG00000028884	Rpa2 / replication protein A2 / P15927*	/ reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr