ENSMUSG00000024039


Mus musculus

Features
Gene ID: ENSMUSG00000024039
  
Biological name :Cbs
  
Synonyms : Cbs / Cystathionine beta-synthase / Q91WT9
  
Possible biological names infered from orthology : CBSL / cystathionine-beta-synthase like / P0DN79 / P35520
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: B1
Gene start: 31612623
Gene end: 31637199
  
Corresponding Affymetrix probe sets: 10449712 (MoGene1.0st)   1423844_s_at (Mouse Genome 430 2.0 Array)   1425623_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118472
Ensembl peptide - ENSMUSP00000113209
Ensembl peptide - ENSMUSP00000118785
Ensembl peptide - ENSMUSP00000117454
Ensembl peptide - ENSMUSP00000066878
Ensembl peptide - ENSMUSP00000077597
NCBI entrez gene - 12411     See in Manteia.
MGI - MGI:88285
RefSeq - XM_006523549
RefSeq - XM_006523551
RefSeq - XM_006523550
RefSeq - NM_001271353
RefSeq - NM_144855
RefSeq - NM_178224
RefSeq Peptide - NP_001258282
RefSeq Peptide - NP_659104
RefSeq Peptide - NP_835742
swissprot - Q91WT9
swissprot - D3Z4K2
swissprot - D3YUF2
swissprot - D3YYN0
Ensembl - ENSMUSG00000024039
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cbsaENSDARG00000053500Danio rerio
 cbsbENSDARG00000010946Danio rerio
 ENSGALG00000016196Gallus gallus
 CBSENSG00000160200Homo sapiens
 CBSLENSG00000274276Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001216  Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site
 IPR001926  Pyridoxal-phosphate dependent enzyme
 IPR005857  Cystathionine beta-synthase
 IPR036052  Tryptophan synthase beta subunit-like PLP-dependent enzyme


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001958 endochondral ossification IMP
 biological_processGO:0001974 blood vessel remodeling IMP
 biological_processGO:0006535 cysteine biosynthetic process from serine IEA
 biological_processGO:0006563 L-serine metabolic process ISS
 biological_processGO:0006801 superoxide metabolic process IMP
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0019343 cysteine biosynthetic process via cystathionine IEA
 biological_processGO:0019344 cysteine biosynthetic process IMP
 biological_processGO:0019346 transsulfuration IEA
 biological_processGO:0021587 cerebellum morphogenesis IMP
 biological_processGO:0030823 obsolete regulation of cGMP metabolic process IMP
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043418 homocysteine catabolic process ISS
 biological_processGO:0043506 regulation of JUN kinase activity IMP
 biological_processGO:0050667 homocysteine metabolic process ISS
 biological_processGO:0050880 regulation of blood vessel size IMP
 biological_processGO:0051593 response to folic acid IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060135 maternal process involved in female pregnancy IMP
 biological_processGO:0060351 cartilage development involved in endochondral bone morphogenesis IMP
 biological_processGO:0070814 hydrogen sulfide biosynthetic process ISS
 biological_processGO:0071456 cellular response to hypoxia IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0004122 cystathionine beta-synthase activity ISO
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0019825 oxygen binding ISO
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0020037 heme binding IBA
 molecular_functionGO:0030170 pyridoxal phosphate binding IBA
 molecular_functionGO:0031625 ubiquitin protein ligase binding ISO
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050421 nitrite reductase (NO-forming) activity ISO
 molecular_functionGO:0070025 carbon monoxide binding ISO
 molecular_functionGO:0070026 nitric oxide binding ISO
 molecular_functionGO:0072341 modified amino acid binding ISO
 molecular_functionGO:1904047 S-adenosyl-L-methionine binding ISO


Pathways (from Reactome)
Pathway description
Cysteine formation from homocysteine


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0000240 extramedullary hematopoiesis "formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000255 vasculature congestion "obstruction of the normal flux of blood within the blood vessel network" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000448 pointed snout "nose tapers to a small tip, sharper angle than wild type " [J:18378]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000528 delayed kidney development "late onset of the induction and/or differentiation of the kidney" [J:18048]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Fcgr2btm1Ttk/Fcgr2btm1Ttk,Il17atm1Yiw/Il17atm1Yiw
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000652 enlarged sebaceous gland "increased size of the sebum secreting glands of the hair shaft" [J:30249]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001211 wrinkled skin "irregular folds and/or indentations on the skin" [J:19212]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001237 enlarged spinous cells "increased size of the cells of the spinous layer of the epidermis" [J:47225]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001244 thin dermal layer "reduced thickness of the dermis" [J:65030]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 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: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001290 delayed eyelid opening "late average time for the first postnatal eye opening" [J:17792]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001613 abnormal vasodilation "anomalous widening of the lumen of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001716 abnormal placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [J:23171]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001860 liver inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the liver" [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: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002111 abnormal tail morphology "abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002656 abnormal keratinocyte differentiation "developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002699 abnormal vitreous body "anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003070 increased vascular permeability "greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003333 liver fibrosis "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003719 abnormal pericyte morphology "malformation in the connective tissue cells that occurs around capillaries or other small blood vessels " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 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: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004003 abnormal vascular endothelial cell physiology "anomaly in the function of the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0004014 abnormal uterine environment "anomaly or inability of the uterus to support embryonic development" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004125 abnormal venule morphology "any structural anomaly in the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0004126 thin hypodermis "reduced thickness of the innermost and thickest layer of the skin composed of loose connective tissue containing adipoctyes" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004256 abnormal maternal decidual layer morphology "anomaly in the structure of the maternal uterine-derived portion of the placenta" [PMID:11433360]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004903 abnormal uterus weight "anomaly in the weight of the female organ of gestation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0004921 decreased placenta weight "reduction in the weight of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0005186 increased circulating progesterone level "greater than the normal blood concentration of this antiestrogenic steroid" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:66817]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
Show

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Cbstm1Unc/Cbstm1Unc
Genetic Background: B6.129P2-Cbstm1Unc/J

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0005339 increased susceptibility to atherosclerosis "more likely than the norm to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005607 decreased bleeding time "less than the normal duration of blood flow after skin puncture; indicative of platement and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005639 hemosiderosis "condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0006076 abnormal circulating homocysteine level "aberrant concentration in the blood of this amino acid" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

Allelic Composition: Cbstm1Unc/Cbstm1Unc
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS*I278T)1Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

Allelic Composition: Cbstm1Unc/Cbstm1Unc
Genetic Background: B6.129P2-Cbstm1Unc/J

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0006190 retinal ischemia "abnormal incidence of or response to loss of circulation in the retina; may be induced or spontaneous" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0008553 increased circulating tumor necrosis factor level "greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0008751 abnormal interleukin level "deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008752 abnormal tumor necrosis factor level "deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [MESH:D12.644.276.374.500.800]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008852 retinal neovascularization "formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0008871 abnormal ovarian follicle number "abnormal numbers of spheroid cell aggregations in the ovary" [MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008957 abnormal placenta junctional zone morphology "fetally derived placental region that separates the maternal uterine tissue from the placenta labyrinth" [PMID:16367805]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009007 short estrous cycle "decrease in the length of the sexual cycle of female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009012 short diestrus "decrease in the length of the diestrous phase of the estrous cycle in female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009018 short estrus "decrease in the length of the estrous phase of the estrous cycle in female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009020 prolonged metestrus "increase in the length of the metestrous phase of the estrous cycle in female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009392 retinal gliosis "increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbstm1Unc/Cbstm1Unc,Tg(CBS)11181Eri/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0009661 abnormal pregnancy "any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth" [ISBN:0198542771 "Rugh, Roberts, The Mouse: Its Reproduction and Development", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0010097 abnormal retinal blood vessel morphology "any structural anomaly of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0010098 abnormal retinal blood vessel pattern "anomaly in the systematic arrangement of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0010452 retina microaneurysm "focal dilation of arteriocapillary junctions in the retina" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Prlrtm1Cnp/Prlr+
Genetic Background: involves: 129P2/OlaHsd

 MP:0012065 increased astrocyte number "increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord" [CL:0000127, MGI:csmith]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

 MP:0012335 increased circulating homocysteine level "greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12" [MGI:csmith]
Show

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0013022 increased Ly6C high monocyte number "increase in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues" [MGI:Annie_Speak]
Show

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cbstm1Unc/Cbstm1Unc,Tg(Mt1-CBS)25Waku/0
Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

 MP:0014179 abnormal blood-retinal barrier function "anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal circulation and tight-junctions between retinal epithelial cells preventing passage of large molecules from choriocapillaris into the retina; the BRB barrier becomes more leaky in patients with diabetic retinopathy" [https://en.wikipedia.org/wiki/Blood%E2%80%93retinal_barrier]
Show

Allelic Composition: Cbstm1Unc/Cbs+
Genetic Background: B6.129P2-Cbstm1Unc/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024039 Cbs / Q91WT9 / Cystathionine beta-synthase / CBSL* / P0DN79* / P35520* / cystathionine-beta-synthase like*  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


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