Strain Name:

B6.129P2-Cbstm1Unc/J

Stock Number:

002853

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Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6
Donor Strain 129P2 via E14TG2a-derived BK4 ES cell line
 
Donating Investigator IMR Colony,   The Jackson Laboratory

Appearance
black
Related Genotype: a/a

Description
The phenotype of cystathionine-beta synthase deficient mice on the C57BL/6J background has not been characterized. Homozygous mice on the mixed B6,129 background suffer from severe growth retardation and a majority of them are dead by 5 weeks of age. Histological examination showed that the hepatocytes of homozygotes were enlarged, multinucleated, and filled with microvesicular lipid droplets. Plasma homocysteine levels of the homozygotes were approximately 40 times normal. Homozygotes may be used as a model for severe homocysteinemia. Heterozygous mutants have an approximately 50% reduction in cystathionine beta-synthase mRNA and enzyme activity in the liver and have twice normal plasma homocysteine levels. Thus, the heterozygous mutants are promising for studying the in vivo role of elevated levels of homocysteine in the etiology of cardiovascular diseases.

Development
The Cbs-deficient mutation was developed in the lab of Dr. Nobuyo Maeda at The University of North Carolina at Chapel Hill. The 129/Ola-derived BK4 ES cell line was used. This C57BL/6J-Cbstm1Unc strain was generated by crossing the Cbstm1Unc mutation onto C57BL/6J mice.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Cbstm1Unc allele
002461   B6;129P2-Cbstm1Unc/J
View Strains carrying   Cbstm1Unc     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Homocysteinemia
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Cbstm1Unc/Cbs+

        B6.129P2-Cbstm1Unc/J
  • homeostasis/metabolism phenotype
  • abnormal circulating homocysteine level
    • on a control diet, heterozygotes display normal plasma total homocysteine levels relative to wild-type mice (6.4 0.6 M vs 5.3 0.7 M, respectively)   (MGI Ref ID J:64885)
    • however, on a low-folate diet, heterozygotes exhibit siginifcantly elevated plasma total homocysteine levels relative to wild-type mice (25.1 3.2 M vs 11.6 4.5 M, respectively)   (MGI Ref ID J:64885)
    • serum total homocysteine levels is increased compared to in wild-type mice   (MGI Ref ID J:166184)
  • cardiovascular system phenotype
  • abnormal vascular endothelial cell physiology
    • on a low-folate diet (~50% reduction in plasma folate levels), heterozygotes display a significant endothelial vasomotor dysfunction associated with moderate hyperhomocysteinemia   (MGI Ref ID J:64885)
    • endothelial vasomotor dysfunction is noted only in mice with a combined defect in homocysteine remethylation (produced by dietary folate deficiency) and homocysteine transsulfuration (produced by heterozygous deficiency)   (MGI Ref ID J:64885)
  • abnormal vasodilation
    • on a control diet, heterozygotes show normal relaxation of aortic rings in response to the endothelium-dependent vasodilator acetylcholine relative to wild-type mice   (MGI Ref ID J:64885)
    • however, on a low-folate diet, heterozygotes exhibit impaired maximal relaxation of aortic rings in response to acetylcholine relative to wild-type mice (58 9% vs 84 4%, respectively)   (MGI Ref ID J:64885)
    • no significant differences in relaxation to nitroprusside or contraction to the thromboxane A2 analog U-46619 are observed between wild-type and heterozygous mice fed either control or low-folate diets   (MGI Ref ID J:64885)
    • no significant differences in aortic thrombomodulin activity are observed between wild-type and heterozygous mice fed either control or low-folate diets   (MGI Ref ID J:64885)
  • muscle phenotype
  • abnormal vasodilation
    • on a control diet, heterozygotes show normal relaxation of aortic rings in response to the endothelium-dependent vasodilator acetylcholine relative to wild-type mice   (MGI Ref ID J:64885)
    • however, on a low-folate diet, heterozygotes exhibit impaired maximal relaxation of aortic rings in response to acetylcholine relative to wild-type mice (58 9% vs 84 4%, respectively)   (MGI Ref ID J:64885)
    • no significant differences in relaxation to nitroprusside or contraction to the thromboxane A2 analog U-46619 are observed between wild-type and heterozygous mice fed either control or low-folate diets   (MGI Ref ID J:64885)
    • no significant differences in aortic thrombomodulin activity are observed between wild-type and heterozygous mice fed either control or low-folate diets   (MGI Ref ID J:64885)

Cbstm1Unc/Cbstm1Unc

        B6.129P2-Cbstm1Unc/J
  • homeostasis/metabolism phenotype
  • abnormal circulating amino acid level
    • mice exhibit serum homocysteine, total homocysteine, and methionine unlike in wild-type mice   (MGI Ref ID J:166184)
    • mice exhibit decreased serum taurine levels compared to in wild-type mice   (MGI Ref ID J:166184)
    • abnormal circulating homocysteine level
      • serum total homocysteine levels is increased compared to in wild-type mice   (MGI Ref ID J:166184)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Cbstm1Unc/Cbs+

        involves: 129P2/OlaHsd * C57BL/6J
  • homeostasis/metabolism phenotype
  • abnormal circulating homocysteine level
    • at P21, heterozygotes show a 2-fold increase in plasma homocysteine levels relative to wild-type mice   (MGI Ref ID J:23321)
    • homocysteine concentrations decrease with age in wild-type and heterozygous mice, reaching levels of 3 nmol/ml and 7 nmol/ml, respectively, by 22 weeks of age   (MGI Ref ID J:23321)
  • liver/biliary system phenotype
  • abnormal hepatocyte morphology
    • hepatocytes have anisonucleosis and fairly prominent nucleoli and appear to be slightly larger   (MGI Ref ID J:23321)
  • integument phenotype
  • *normal* integument phenotype
    • at 3 months, heterozygotes display normal skin and hair morphology   (MGI Ref ID J:105571)

Cbstm1Unc/Cbstm1Unc

        involves: 129P2/OlaHsd * C57BL/6J
  • mortality/aging
  • partial postnatal lethality
    • homozygotes are present at roughly the expected Mendelian frequency until P14; however, less than 60% of the expected number of homozygotes are obtained at 3 weeks of age   (MGI Ref ID J:23321)
  • premature death   (MGI Ref ID J:101303)
    • on a standard laboratory diet, homozygotes show a high incidence of lethality between 3 and 4 weeks after birth, with the majority dying within 5 weeks of age; only ~20% of the expected number is obtained at 5-12 weeks of age   (MGI Ref ID J:23321)
    • dietary supplementation with choline at weaning extends postnatal survival to adulthood   (MGI Ref ID J:105571)
  • growth/size/body phenotype
  • abnormal facial morphology
    • homozygotes dying at early postnatal stages have faces that are typical of very young animals   (MGI Ref ID J:23321)
    • pointed snout
      • homozygotes display a pointed snout   (MGI Ref ID J:105571)
  • decreased body size   (MGI Ref ID J:105571)
    • at P21, most homozygotes appear runted relative to wild-type mice   (MGI Ref ID J:23321)
    • decreased body weight
      • at P14, homozygotes display body weights that are only 80% of those found in wild-type or heterozygous mice   (MGI Ref ID J:23321)
      • at 3 weeks, homozygotes weigh significantly less than wild-type mice   (MGI Ref ID J:105571)
  • postnatal growth retardation
    • homozygotes show a progressive failure in weight gain after P7; differences in body weight become pronounced between P14 and P21   (MGI Ref ID J:23321)
    • a few homozygotes surviving >2 months display normal stature at weaning and maintain a relatively normal body size until just before death   (MGI Ref ID J:23321)
    • on a choline-enriched diet, adult homozygotes exhibit growth retardation, weighing an average of 20% less than wild-type or heterozygous mice   (MGI Ref ID J:105571)
  • liver/biliary system phenotype
  • abnormal hepatocyte morphology
    • at P14-P21, mutant hepatocytes appear enlarged and pleiomorphic, with a 2-fold increase in mean diameter and enlarged nuclei; multi- and binucleated hepatocytes are present   (MGI Ref ID J:23321)
  • enlarged liver
    • occasionally, older female homozygotes (one 3-mo-old and one 6-mo-old) show hepatomegaly with subtle autolyic changes   (MGI Ref ID J:23321)
  • hepatic steatosis
    • at P21, some mutant hepatocytes contain microvesicular cytoplasmic lipid droplets   (MGI Ref ID J:23321)
    • on a standard laboratory diet, homozygotes develop hepatic steatosis at ~P15, with lipid droplets containing triacylglycerols and cholesteryl esters   (MGI Ref ID J:101303)
    • on a choline-enriched diet, homozygotes exhibit a mild, localized hepatic steatosis (grade 1) at 12 and 18 weeks, which progresses to extensive grade 2 steatosis by 32 weeks of age   (MGI Ref ID J:101303)
  • increased hepatocyte apoptosis
    • at 8- and 12 weeks, mutant livers exhibit a significantly increased proapoptotic Bax/Bcl-2 ratio (up to 16 vs. 1 arbitrary unit), suggesting induction of a mitochondrial apoptotic pathway   (MGI Ref ID J:101303)
    • however, no caspase-3 activation, DNA fragmentation, or TUNEL-positive cells are detected at 12 weeks or later, suggesting that protective signals may counteract apoptotic signals, leading to chronic inflammation   (MGI Ref ID J:101303)
  • liver fibrosis
    • on a standard laboratory diet, homozygotes develop hepatic fibrosis at ~P15   (MGI Ref ID J:101303)
    • on a choline-enriched diet, 8-week-old homozygotes display a mild hepatic perivascular fibrosis which progresses to pericellular fibrosis at week 12 and portal fibrosis by week 32, along with a ~50-fold increase in liver collagen content   (MGI Ref ID J:101303)
  • liver inflammation
    • on a choline-enriched diet, 8-week-old and ageing homozygotes display mild hepatic inflammation, with foci of perilobular mononuclear inflammatory infiltrates around the vessels   (MGI Ref ID J:101303)
    • however, no hepatocyte necrosis is detected up to 32 weeks age   (MGI Ref ID J:101303)
  • pale liver
    • at P21, mutant livers show a light tan color instead of a normal reddish-brown color   (MGI Ref ID J:23321)
  • homeostasis/metabolism phenotype
  • abnormal circulating homocysteine level
    • at P21, F2 homozygotes show plasma homocysteine levels that are ~40 times higher than those of age-matched wild-type mice   (MGI Ref ID J:23321)
    • at 3 months, homozygotes fed a choline-enriched diet, show a 50-fold increase in total plasma homocysteine levels relative to similarly fed wild-type mice   (MGI Ref ID J:105571)
    • at 3 months, homozygotes show a 20-fold increase in mean hepatic homocysteine levels relative to wild-type mice   (MGI Ref ID J:101303)
  • abnormal interleukin level
    • at 8- and 12 weeks, mutant livers display significantly higher IL-6 mRNA levels relative to wild-type livers   (MGI Ref ID J:101303)
  • abnormal tumor necrosis factor level
    • at 8- and 12 weeks, mutant livers display significantly higher TNF mRNA levels relative to wild-type livers; CD14 mRNA levels are also increased, confirming Kuppfer cell activation and elevated TNF production   (MGI Ref ID J:101303)
  • hemosiderosis
    • at P21, one of 4 homozygotes display hemosiderin deposits in spleen   (MGI Ref ID J:23321)
  • increased circulating progesterone level
    • at day 6 after mating with vasectomized males, plasma progesterone levels are significantly higher in pseudo-pregnant female homozygotes relative to their wild-type counterparts   (MGI Ref ID J:114850)
  • hematopoietic system phenotype
  • extramedullary hematopoiesis
    • at P21, mutant (but not wild-type) hepatocytes display extramedullary hematopoiesis   (MGI Ref ID J:23321)
  • limbs/digits/tail phenotype
  • abnormal limb morphology
    • homozygotes dying at early postnatal stages display tails and extremities of smaller diameters relative to their length   (MGI Ref ID J:23321)
    • at P21, mutant knee joints appear immature relative to wild-type joints   (MGI Ref ID J:23321)
  • abnormal tail morphology
    • homozygotes dying at early postnatal stages display tails and extremities of smaller diameters relative to their length   (MGI Ref ID J:23321)
  • reproductive system phenotype
  • abnormal maternal decidual layer morphology
    • at day 18 of gestation, the thickness of decidual layer is reduced in placentas from pregnant female homozygotes, indicating reduced trophoblast invasion in these females   (MGI Ref ID J:114850)
  • abnormal ovarian follicle number
    • in response to the ovulatory surge of hCG, female homozygotes develop less follicles than wild-type females, indicating a reduced response to pregnant mare serum gonadotropin   (MGI Ref ID J:114850)
    • in addition, superovulated female homozygotes display an increased Oil red O staining of lipids in the ovarian corpora lutea relative to wild-type females   (MGI Ref ID J:114850)
  • abnormal pregnancy
    • despite a similar number of implantation sites, the percentage of surviving fetuses in homozygous pregnant females is severely reduced relative to wild-type pregnant females   (MGI Ref ID J:114850)
    • abnormal uterine environment
      • as both mutant ovaries and ovulated oocytes appear morphologically normal, authors suggest that uterine dysfunction is a consequence of either hyperhomocysteinemia or other factor(s) in the uterine environment of homozygous mutant females   (MGI Ref ID J:114850)
  • abnormal uterus weight
    • female homozygotes show a striking decrease in gravid uterine weight relative to wild-type females; this is accompanied by significant reductions in placental and fetal weights   (MGI Ref ID J:114850)
    • notably, the endometrium, muscular layer and perimetrium appear histologically normal   (MGI Ref ID J:114850)
  • decreased litter size
    • matings between female x male homozygotes result in a drastic reduction of litter size, since five homozygous females had only two born pups, which died soon after birth, versus 39 obtained with heterozygous females   (MGI Ref ID J:114850)
  • female infertility
    • female homozygotes surviving >2months fail to reproduce   (MGI Ref ID J:23321)
    • female homozygotes show normal sexual behavior but are infertile due to uterine failure   (MGI Ref ID J:114850)
    • fertility is restored when homozygous mutant ovaries are transplanted to normal ovarectomized recipients   (MGI Ref ID J:114850)
  • prolonged metestrus   (MGI Ref ID J:114850)
  • short diestrus   (MGI Ref ID J:114850)
  • short estrous cycle
    • infertile female homozygotes show a shorter and irregular estrus cycle   (MGI Ref ID J:114850)
    • both estrus and diestrus periods are decreased while the metestrus is prolonged   (MGI Ref ID J:114850)
    • differences in estrus cycle have no effect over the number of oocytes ovulated during normal estruses, although the yield is much lower when female homozygotes are superovulated   (MGI Ref ID J:114850)
  • short estrus   (MGI Ref ID J:114850)
  • vision/eye phenotype
  • abnormal eye development
    • at P21, mutant eyes appear immature relative to wild-type or heterozygous eyes; however, no ocular pathology is observed   (MGI Ref ID J:23321)
  • delayed eyelid opening
    • homozygotes dying at early postnatal stages show delayed eyelid opening   (MGI Ref ID J:23321)
  • microphthalmia
    • at P21, most homozygotes exhibit smaller eyes   (MGI Ref ID J:23321)
  • respiratory system phenotype
  • abnormal lung development
    • at P21, mutant lungs appear immature relative to wild-type or heterozygous lungs   (MGI Ref ID J:23321)
  • renal/urinary system phenotype
  • delayed kidney development
    • at P21, mutant kidneys appear immature relative to wild-type or heterozygous kidneys   (MGI Ref ID J:23321)
  • cardiovascular system phenotype
  • abnormal heart development
    • at P21, mutant hearts appear immature relative to wild-type or heterozygous hearts   (MGI Ref ID J:23321)
    • no thrombi are detected in vascular segments or other tissues   (MGI Ref ID J:23321)
  • craniofacial phenotype
  • abnormal facial morphology
    • homozygotes dying at early postnatal stages have faces that are typical of very young animals   (MGI Ref ID J:23321)
    • pointed snout
      • homozygotes display a pointed snout   (MGI Ref ID J:105571)
  • endocrine/exocrine gland phenotype
  • abnormal ovarian follicle number
    • in response to the ovulatory surge of hCG, female homozygotes develop less follicles than wild-type females, indicating a reduced response to pregnant mare serum gonadotropin   (MGI Ref ID J:114850)
    • in addition, superovulated female homozygotes display an increased Oil red O staining of lipids in the ovarian corpora lutea relative to wild-type females   (MGI Ref ID J:114850)
  • enlarged sebaceous gland
    • at 3 months, homozygotes exhibit hyperplastic sebaceous glands   (MGI Ref ID J:105571)
  • cellular phenotype
  • abnormal keratinocyte differentiation
    • at 3 months, homozygotes exhibit accelerated maturation of keratinocytes   (MGI Ref ID J:105571)
    • enlarged spinous cells
      • at 3 months, the mutant epidermis displays enlarged spinous cells, in the absence of increased proliferation   (MGI Ref ID J:105571)
  • increased hepatocyte apoptosis
    • at 8- and 12 weeks, mutant livers exhibit a significantly increased proapoptotic Bax/Bcl-2 ratio (up to 16 vs. 1 arbitrary unit), suggesting induction of a mitochondrial apoptotic pathway   (MGI Ref ID J:101303)
    • however, no caspase-3 activation, DNA fragmentation, or TUNEL-positive cells are detected at 12 weeks or later, suggesting that protective signals may counteract apoptotic signals, leading to chronic inflammation   (MGI Ref ID J:101303)
  • oxidative stress
    • at 3 months, mutant livers exhibit enhanced protein oxidation and lipid peroxidation, as shown by a ~30% increase in oxidatively modified proteins (carbonyls) and a similar increase in MDA and 4-HNE aldehydes, respectively   (MGI Ref ID J:101303)
    • hepatic oxidative stress may cause mitochondrial damage in association with activation of hepatic Kuppfer (stellate) cells, leading to liver injury   (MGI Ref ID J:101303)
  • immune system phenotype
  • abnormal interleukin level
    • at 8- and 12 weeks, mutant livers display significantly higher IL-6 mRNA levels relative to wild-type livers   (MGI Ref ID J:101303)
  • abnormal tumor necrosis factor level
    • at 8- and 12 weeks, mutant livers display significantly higher TNF mRNA levels relative to wild-type livers; CD14 mRNA levels are also increased, confirming Kuppfer cell activation and elevated TNF production   (MGI Ref ID J:101303)
  • liver inflammation
    • on a choline-enriched diet, 8-week-old and ageing homozygotes display mild hepatic inflammation, with foci of perilobular mononuclear inflammatory infiltrates around the vessels   (MGI Ref ID J:101303)
    • however, no hepatocyte necrosis is detected up to 32 weeks age   (MGI Ref ID J:101303)
  • embryogenesis phenotype
  • abnormal maternal decidual layer morphology
    • at day 18 of gestation, the thickness of decidual layer is reduced in placentas from pregnant female homozygotes, indicating reduced trophoblast invasion in these females   (MGI Ref ID J:114850)
  • abnormal placenta junctional zone morphology
    • at day 18 of gestation, the junctional zone is reduced in placentae of female homozygotes   (MGI Ref ID J:114850)
  • abnormal placenta labyrinth morphology
    • at day 18 of gestation, the labyrinthine zone is enlarged in placentae of female homozygotes   (MGI Ref ID J:114850)
  • decreased placenta weight
    • at day 18 of gestation, female homozygotes display a decrease of placental mass that correlates with the presence of weakened layers   (MGI Ref ID J:114850)
  • integument phenotype
  • abnormal coat appearance
    • homozygotes lack a normal healthy fur; in contrast, vibrissae, eyelids and nails appear normal   (MGI Ref ID J:105571)
    • abnormal hair growth
      • at 3 months, homozygotes exhibit a sparse fur on their head and a more dense fur on their backs   (MGI Ref ID J:105571)
      • homozygotes display a variable reduction in the (mid-shaft) diameter of back, abdominal, and head hairs   (MGI Ref ID J:105571)
  • abnormal hair follicle morphology
    • at 3 months, mutant hair roots extend deeper into the subcutaneous fatty tissues while the basal portion of the follicles remains in the hypodermis   (MGI Ref ID J:105571)
    • homozygotes exhibit an increased number of hair follicles on their backs   (MGI Ref ID J:105571)
  • abnormal keratinocyte differentiation
    • at 3 months, homozygotes exhibit accelerated maturation of keratinocytes   (MGI Ref ID J:105571)
    • enlarged spinous cells
      • at 3 months, the mutant epidermis displays enlarged spinous cells, in the absence of increased proliferation   (MGI Ref ID J:105571)
  • enlarged sebaceous gland
    • at 3 months, homozygotes exhibit hyperplastic sebaceous glands   (MGI Ref ID J:105571)
  • hyperkeratosis
    • at 3 months, homozygotes epidermal hyperkeratosis   (MGI Ref ID J:105571)
    • however, melanocyte morphology appears normal, and no changes in hair or skin color are observed   (MGI Ref ID J:105571)
  • thin dermal layer
    • at 3 months, homozygotes show a thin dermis; however, epidermal-dermal junctions appear normal   (MGI Ref ID J:105571)
  • thin hypodermis
    • at 3 months, homozygotes display a thinner hypodermis   (MGI Ref ID J:105571)
  • wrinkled skin   (MGI Ref ID J:105571)

Cbstm1Unc/Cbstm1Unc

        involves: 129P2/OlaHsd * C57BL/6
  • homeostasis/metabolism phenotype
  • abnormal circulating homocysteine level
    • plasma levels of N-homocysteine are 8.1-fold higher than in wild-type mice   (MGI Ref ID J:150548)
    • total plasma homocysteine levels are higher than in wild-type mice   (MGI Ref ID J:150548)

Cbstm1Unc/Cbstm1Unc

        involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • mice fed a low cysteine diet fail to exhibit paralysis unlike similarly treated Cthtm1Iish homozygotes   (MGI Ref ID J:166184)
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Research Applications
This mouse can be used to support research in many areas including:

Cbstm1Unc related

Internal/Organ Research
Liver Defects

Metabolism Research

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Cbstm1Unc
Allele Name targeted mutation 1, University of North Carolina
Allele Type Targeted (Null/Knockout)
Common Name(s) CBS; CBS-; Cbs-;
Mutation Made ByDr. Nobuyo Maeda,   University of North Carolina at Chapel Hill
Strain of Origin129P2/OlaHsd
ES Cell Line NameBK4
ES Cell Line Strain129P2/OlaHsd
Gene Symbol and Name Cbs, cystathionine beta-synthase
Chromosome 17
Gene Common Name(s) AI047524; AI303044; HIP4; MGC:18856; MGC:18895; MGC:37300; expressed sequence AI047524; expressed sequence AI303044;
General Note Homozygotes may serve as models of severe homocysteinemia and increase our understanding of the pathophysiology of CBS deficiency, while the apparently healthy heterozygotes will elucidate the role of moderately increased homocysteine levels on the etiology of cardiovascular diseases (J:23321).
Molecular Note A neomycin selection gene replaced a genomic fragment containing exons 3 and 4, which contains sequences encoding conserved residues thought to be required for protein activity. Northern blot analysis on mRNA derived from liver tissue of homozygous micedemonstrated that no stable transcript is produced from this allele. [MGI Ref ID J:23321]

Genotyping

Genotyping Information

Genotyping Protocols

Cbstm1Uncalternate2, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Watanabe M; Osada J; Aratani Y; Kluckman K; Reddick R; Malinow MR; Maeda N. 1995. Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci U S A 92(5):1585-9. [PubMed: 7878023]  [MGI Ref ID J:23321]

Additional References

Schwahn BC; Wendel U; Lussier-Cacan S; Mar MH; Zeisel SH; Leclerc D; Castro C; Garrow TA; Rozen R. 2004. Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. Metabolism 53(5):594-9. [PubMed: 15131763]  [MGI Ref ID J:89359]

Sood HS; Hunt MJ; Tyagi SC. 2003. Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia. Am J Physiol Lung Cell Mol Physiol 284(2):L333-41. [PubMed: 12533311]  [MGI Ref ID J:82063]

Wang H; Jiang X; Yang F; Gaubatz JW; Ma L; Magera MJ; Yang X; Berger PB; Durante W; Pownall HJ; Schafer AI. 2003. Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation. Blood 101(10):3901-7. [PubMed: 12506016]  [MGI Ref ID J:83449]

Cbstm1Unc related

Akahoshi N; Kamata S; Kubota M; Hishiki T; Nagahata Y; Matsuura T; Yamazaki C; Yoshida Y; Yamada H; Ishizaki Y; Suematsu M; Kasahara T; Ishii I. 2014. Neutral aminoaciduria in cystathionine beta-synthase-deficient mice, an animal model of homocystinuria. Am J Physiol Renal Physiol 306(12):F1462-76. [PubMed: 24761004]  [MGI Ref ID J:211078]

Akahoshi N; Kobayashi C; Ishizaki Y; Izumi T; Himi T; Suematsu M; Ishii I. 2008. Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. Hum Mol Genet 17(13):1994-2005. [PubMed: 18364386]  [MGI Ref ID J:136853]

Alberto JM; Hamelet J; Noll C; Blaise S; Bronowicki JP; Gueant JL; Delabar JM; Janel N. 2007. Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway. Mol Genet Metab 91(4):396-8. [PubMed: 17562377]  [MGI Ref ID J:123017]

Baumbach GL; Sigmund CD; Bottiglieri T; Lentz SR. 2002. Structure of cerebral arterioles in cystathionine beta-synthase-deficient mice. Circ Res 91(10):931-7. [PubMed: 12433838]  [MGI Ref ID J:109002]

Beard RS Jr; Bearden SE. 2011. Vascular complications of cystathionine beta-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research. Am J Physiol Heart Circ Physiol 300(1):H13-26. [PubMed: 20971760]  [MGI Ref ID J:168411]

Beard RS Jr; Reynolds JJ; Bearden SE. 2011. Hyperhomocysteinemia increases permeability of the blood-brain barrier by NMDA receptor-dependent regulation of adherens and tight junctions. Blood 118(7):2007-14. [PubMed: 21705496]  [MGI Ref ID J:176910]

Boini KM; Xia M; Abais JM; Xu M; Li CX; Li PL. 2012. Acid sphingomyelinase gene knockout ameliorates hyperhomocysteinemic glomerular injury in mice lacking cystathionine-beta-synthase. PLoS One 7(9):e45020. [PubMed: 23024785]  [MGI Ref ID J:191878]

Cheng Z; Jiang X; Kruger WD; Pratico D; Gupta S; Mallilankaraman K; Madesh M; Schafer AI; Durante W; Yang X; Wang H. 2011. Hyperhomocysteinemia impairs endothelium-derived hyperpolarizing factor-mediated vasorelaxation in transgenic cystathionine beta synthase-deficient mice. Blood 118(7):1998-2006. [PubMed: 21653942]  [MGI Ref ID J:176934]

Choumenkovitch SF; Selhub J; Bagley PJ; Maeda N; Nadeau MR; Smith DE; Choi SW. 2002. In the cystathionine beta-synthase knockout mouse, elevations in total plasma homocysteine increase tissue S-adenosylhomocysteine, but responses of S-adenosylmethionine and DNA methylation are tissue specific. J Nutr 132(8):2157-60. [PubMed: 12163655]  [MGI Ref ID J:78135]

Dayal S; Bottiglieri T; Arning E; Maeda N; Malinow MR; Sigmund CD; Heistad DD; Faraci FM; Lentz SR. 2001. Endothelial dysfunction and elevation of S-adenosylhomocysteine in cystathionine beta-synthase-deficient mice. Circ Res 88(11):1203-9. [PubMed: 11397788]  [MGI Ref ID J:115397]

Dayal S; Chauhan AK; Jensen M; Leo L; Lynch CM; Faraci FM; Kruger WD; Lentz SR. 2012. Paradoxical absence of a prothrombotic phenotype in a mouse model of severe hyperhomocysteinemia. Blood 119(13):3176-83. [PubMed: 22186991]  [MGI Ref ID J:182448]

Dayal S; Rodionov RN; Arning E; Bottiglieri T; Kimoto M; Murry DJ; Cooke JP; Faraci FM; Lentz SR. 2008. Tissue-specific downregulation of dimethylarginine dimethylaminohydrolase in hyperhomocysteinemia. Am J Physiol Heart Circ Physiol 295(2):H816-25. [PubMed: 18567702]  [MGI Ref ID J:138223]

Dayal S; Wilson KM; Leo L; Arning E; Bottiglieri T; Lentz SR. 2006. Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia. Blood 108(7):2237-43. [PubMed: 16804115]  [MGI Ref ID J:139462]

Devlin AM; Bottiglieri T; Domann FE; Lentz SR. 2005. Tissue-specific changes in H19 methylation and expression in mice with hyperhomocysteinemia. J Biol Chem 280(27):25506-11. [PubMed: 15899898]  [MGI Ref ID J:100853]

Devlin AM; Singh R; Bottiglieri T; Innis SM; Green TJ. 2010. Hepatic acyl-coenzyme a:cholesterol acyltransferase-2 expression is decreased in mice with hyperhomocysteinemia. J Nutr 140(2):231-7. [PubMed: 20018805]  [MGI Ref ID J:156448]

Devlin AM; Singh R; Wade RE; Innis SM; Bottiglieri T; Lentz SR. 2007. Hypermethylation of fads2 and altered hepatic Fatty Acid and phospholipid metabolism in mice with hyperhomocysteinemia. J Biol Chem 282(51):37082-90. [PubMed: 17971455]  [MGI Ref ID J:128932]

Eberhardt RT; Forgione MA; Cap A; Leopold JA; Rudd MA; Trolliet M; Heydrick S; Stark R; Klings ES; Moldovan NI; Yaghoubi M; Goldschmidt-Clermont PJ; Farber HW; Cohen R; Loscalzo J. 2000. Endothelial dysfunction in a murine model of mild hyperhomocyst(e)inemia. J Clin Invest 106(4):483-91. [PubMed: 10953023]  [MGI Ref ID J:64041]

Enokido Y; Suzuki E; Iwasawa K; Namekata K; Okazawa H; Kimura H. 2005. Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS. FASEB J 19(13):1854-6. [PubMed: 16160063]  [MGI Ref ID J:102677]

Ganapathy PS; Moister B; Roon P; Mysona BA; Duplantier J; Dun Y; Moister TK; Farley MJ; Prasad PD; Liu K; Smith SB. 2009. Endogenous elevation of homocysteine induces retinal neuron death in the cystathionine-beta-synthase mutant mouse. Invest Ophthalmol Vis Sci 50(9):4460-70. [PubMed: 19357353]  [MGI Ref ID J:154559]

Ganapathy PS; Perry RL; Tawfik A; Smith RM; Perry E; Roon P; Bozard BR; Ha Y; Smith SB. 2011. Homocysteine-mediated modulation of mitochondrial dynamics in retinal ganglion cells. Invest Ophthalmol Vis Sci 52(8):5551-8. [PubMed: 21642619]  [MGI Ref ID J:181410]

Ghosh S; Sulistyoningrum DC; Glier MB; Verchere CB; Devlin AM. 2011. Altered Glutathione Homeostasis in Heart Augments Cardiac Lipotoxicity Associated with Diet-induced Obesity in Mice. J Biol Chem 286(49):42483-93. [PubMed: 22021075]  [MGI Ref ID J:178702]

Givvimani S; Munjal C; Narayanan N; Aqil F; Tyagi G; Metreveli N; Tyagi SC. 2012. Hyperhomocysteinemia decreases intestinal motility leading to constipation. Am J Physiol Gastrointest Liver Physiol 303(3):G281-90. [PubMed: 22595990]  [MGI Ref ID J:191361]

Gupta S; Kruger WD. 2011. Cystathionine beta-synthase deficiency causes fat loss in mice. PLoS One 6(11):e27598. [PubMed: 22096601]  [MGI Ref ID J:180966]

Gupta S; Kuhnisch J; Mustafa A; Lhotak S; Schlachterman A; Slifker MJ; Klein-Szanto A; High KA; Austin RC; Kruger WD. 2009. Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia. FASEB J 23(3):883-93. [PubMed: 18987302]  [MGI Ref ID J:146092]

Gupta S; Melnyk SB; Kruger WD. 2014. Cystathionine beta-synthase-deficient mice thrive on a low-methionine diet. FASEB J 28(2):781-90. [PubMed: 24189943]  [MGI Ref ID J:210387]

Guzman MA; Navarro MA; Carnicer R; Sarria AJ; Acin S; Arnal C; Muniesa P; Surra JC; Arbones-Mainar JM; Maeda N; Osada J. 2006. Cystathionine beta-synthase is essential for female reproductive function. Hum Mol Genet 15(21):3168-76. [PubMed: 16984962]  [MGI Ref ID J:114850]

Hamelet J; Couty JP; Crain AM; Noll C; Postic C; Paul JL; Delabar JM; Viguier M; Janel N. 2009. Calpain activation is required for homocysteine-mediated hepatic degradation of inhibitor I kappa B alpha. Mol Genet Metab 97(2):114-20. [PubMed: 19299176]  [MGI Ref ID J:148356]

Hamelet J; Demuth K; Dairou J; Ledru A; Paul JL; Dupret JM; Delabar JM; Rodrigues-Lima F; Janel N. 2007. Effects of catechin on homocysteine metabolism in hyperhomocysteinemic mice. Biochem Biophys Res Commun 355(1):221-7. [PubMed: 17292331]  [MGI Ref ID J:118638]

Hamelet J; Demuth K; Delabar JM; Janel N. 2006. Inhibition of extracellular signal-regulated kinase in liver of hyperhomocysteinemic mice. Arterioscler Thromb Vasc Biol 26(7):e126-7. [PubMed: 16794227]  [MGI Ref ID J:127993]

Hamelet J; Seltzer V; Petit E; Noll C; Andreau K; Delabar JM; Janel N. 2008. Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver. Biochim Biophys Acta 1782(7-8):482-8. [PubMed: 18541157]  [MGI Ref ID J:137226]

Ishii I; Akahoshi N; Yamada H; Nakano S; Izumi T; Suematsu M. 2010. Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. J Biol Chem 285(34):26358-68. [PubMed: 20566639]  [MGI Ref ID J:166184]

Jakubowski H; Perla-Kajan J; Finnell RH; Cabrera RM; Wang H; Gupta S; Kruger WD; Kraus JP; Shih DM. 2009. Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J 23(6):1721-7. [PubMed: 19204075]  [MGI Ref ID J:150548]

Jiang X; Yang F; Tan H; Liao D; Bryan RM Jr; Randhawa JK; Rumbaut RE; Durante W; Schafer AI; Yang X; Wang H. 2005. Hyperhomocystinemia impairs endothelial function and eNOS activity via PKC activation. Arterioscler Thromb Vasc Biol 25(12):2515-21. [PubMed: 16210565]  [MGI Ref ID J:116854]

Kamath AF; Chauhan AK; Kisucka J; Dole VS; Loscalzo J; Handy DE; Wagner DD. 2006. Elevated levels of homocysteine compromise blood-brain barrier integrity in mice. Blood 107(2):591-3. [PubMed: 16189268]  [MGI Ref ID J:125795]

Keating AK; Freehauf C; Jiang H; Brodsky GL; Stabler SP; Allen RH; Graham DK; Thomas JA; Van Hove JL; Maclean KN. 2011. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab 103(4):330-7. [PubMed: 21601502]  [MGI Ref ID J:174987]

Kumar M; Tyagi N; Moshal KS; Sen U; Pushpakumar SB; Vacek T; Lominadze D; Tyagi SC. 2008. GABAA receptor agonist mitigates homocysteine-induced cerebrovascular remodeling in knockout mice. Brain Res 1221:147-53. [PubMed: 18547546]  [MGI Ref ID J:139757]

Lentz SR; Erger RA; Dayal S; Maeda N; Malinow MR; Heistad DD; Faraci FM. 2000. Folate dependence of hyperhomocysteinemia and vascular dysfunction in cystathionine beta-synthase-deficient mice. Am J Physiol Heart Circ Physiol 279(3):H970-5. [PubMed: 10993757]  [MGI Ref ID J:64885]

Liao D; Tan H; Hui R; Li Z; Jiang X; Gaubatz J; Yang F; Durante W; Chan L; Schafer AI; Pownall HJ; Yang X; Wang H. 2006. Hyperhomocysteinemia decreases circulating high-density lipoprotein by inhibiting apolipoprotein A-I Protein synthesis and enhancing HDL cholesterol clearance. Circ Res 99(6):598-606. [PubMed: 16931800]  [MGI Ref ID J:125063]

Maclean KN; Greiner LS; Evans JR; Sood SK; Lhotak S; Markham NE; Stabler SP; Allen RH; Austin RC; Balasubramaniam V; Jiang H. 2012. Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. J Biol Chem 287(38):31994-2005. [PubMed: 22854956]  [MGI Ref ID J:190397]

Maclean KN; Jiang H; Greiner LS; Allen RH; Stabler SP. 2012. Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. Mol Genet Metab 105(3):395-403. [PubMed: 22192524]  [MGI Ref ID J:182641]

Maclean KN; Sikora J; Kozich V; Jiang H; Greiner LS; Kraus E; Krijt J; Crnic LS; Allen RH; Stabler SP; Elleder M; Kraus JP. 2010. Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment. Mol Genet Metab 101(2-3):163-71. [PubMed: 20638882]  [MGI Ref ID J:165611]

Maclean KN; Sikora J; Kozich V; Jiang H; Greiner LS; Kraus E; Krijt J; Overdier KH; Collard R; Brodsky GL; Meltesen L; Crnic LS; Allen RH; Stabler SP; Elleder M; Rozen R; Patterson D; Kraus JP. 2010. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab 101(2-3):153-62. [PubMed: 20638879]  [MGI Ref ID J:165612]

Mikael LG; Genest J Jr; Rozen R. 2006. Elevated homocysteine reduces apolipoprotein A-I expression in hyperhomocysteinemic mice and in males with coronary artery disease. Circ Res 98(4):564-71. [PubMed: 16439690]  [MGI Ref ID J:118991]

Morikawa T; Kajimura M; Nakamura T; Hishiki T; Nakanishi T; Yukutake Y; Nagahata Y; Ishikawa M; Hattori K; Takenouchi T; Takahashi T; Ishii I; Matsubara K; Kabe Y; Uchiyama S; Nagata E; Gadalla MM; Snyder SH; Suematsu M. 2012. Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway. Proc Natl Acad Sci U S A :. [PubMed: 22232681]  [MGI Ref ID J:179917]

Namekata K; Enokido Y; Ishii I; Nagai Y; Harada T; Kimura H. 2004. Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. J Biol Chem 279(51):52961-9. [PubMed: 15466479]  [MGI Ref ID J:128573]

Noll C; Planque C; Ripoll C; Guedj F; Diez A; Ducros V; Belin N; Duchon A; Paul JL; Badel A; de Freminville B; Grattau Y; Blehaut H; Herault Y; Janel N; Delabar JM. 2009. DYRK1A, a novel determinant of the methionine-homocysteine cycle in different mouse models overexpressing this Down-syndrome-associated kinase. PLoS One 4(10):e7540. [PubMed: 19844572]  [MGI Ref ID J:154042]

Nuno-Ayala M; Guillen N; Arnal C; Lou-Bonafonte JM; de Martino A; Garcia-de-Jalon JA; Gascon S; Osaba L; Osada J; Navarro MA. 2012. Cystathionine beta-synthase deficiency causes infertility by impairing decidualization and gene expression networks in uterus implantation sites. Physiol Genomics 44(14):702-16. [PubMed: 22617046]  [MGI Ref ID J:190486]

Pacheco-Quinto J; Rodriguez de Turco EB; DeRosa S; Howard A; Cruz-Sanchez F; Sambamurti K; Refolo L; Petanceska S; Pappolla MA. 2006. Hyperhomocysteinemic Alzheimer's mouse model of amyloidosis shows increased brain amyloid beta peptide levels. Neurobiol Dis 22(3):651-6. [PubMed: 16516482]  [MGI Ref ID J:111271]

Pietzsch J; Gruell H; Bournazos S; Donovan BM; Klein F; Diskin R; Seaman MS; Bjorkman PJ; Ravetch JV; Ploss A; Nussenzweig MC. 2012. A mouse model for HIV-1 entry. Proc Natl Acad Sci U S A 109(39):15859-64. [PubMed: 23019371]  [MGI Ref ID J:190317]

Powers RW; Gandley RE; Lykins DL; Roberts JM. 2004. Moderate hyperhomocysteinemia decreases endothelial-dependent vasorelaxation in pregnant but not nonpregnant mice. Hypertension 44(3):327-33. [PubMed: 15249551]  [MGI Ref ID J:134575]

Rhodehouse BC; Mayo JN; Beard RS Jr; Chen CH; Bearden SE. 2013. Opening of the blood-brain barrier before cerebral pathology in mild hyperhomocysteinemia. PLoS One 8(5):e63951. [PubMed: 23696861]  [MGI Ref ID J:200849]

Robert K; Chasse JF; Santiard-Baron D; Vayssettes C; Chabli A; Aupetit J; Maeda N; Kamoun P; London J; Janel N. 2003. Altered gene expression in liver from a murine model of hyperhomocysteinemia. J Biol Chem 278(34):31504-11. [PubMed: 12799373]  [MGI Ref ID J:85105]

Robert K; Maurin N; Ledru A; Delabar J; Janel N. 2004. Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia. Anat Rec A Discov Mol Cell Evol Biol 280(2):1072-6. [PubMed: 15386278]  [MGI Ref ID J:105571]

Robert K; Maurin N; Vayssettes C; Siauve N; Janel N. 2005. Cystathionine beta synthase deficiency affects mouse endochondral ossification. Anat Rec A Discov Mol Cell Evol Biol 282(1):1-7. [PubMed: 15622513]  [MGI Ref ID J:112538]

Robert K; Nehme J; Bourdon E; Pivert G; Friguet B; Delcayre C; Delabar JM; Janel N. 2005. Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver. Gastroenterology 128(5):1405-15. [PubMed: 15887121]  [MGI Ref ID J:101303]

Robert K; Pages C; Ledru A; Delabar J; Caboche J; Janel N. 2005. Regulation of extracellular signal-regulated kinase by homocysteine in hippocampus. Neuroscience 133(4):925-35. [PubMed: 15916860]  [MGI Ref ID J:104247]

Robert K; Santiard-Baron D; Chasse JF; Paly E; Aupetit J; Kamoun P; London J; Janel N. 2004. The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia. J Neurochem 89(1):33-43. [PubMed: 15030387]  [MGI Ref ID J:90586]

Schwahn BC; Wendel U; Lussier-Cacan S; Mar MH; Zeisel SH; Leclerc D; Castro C; Garrow TA; Rozen R. 2004. Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. Metabolism 53(5):594-9. [PubMed: 15131763]  [MGI Ref ID J:89359]

Singh LR; Gupta S; Honig NH; Kraus JP; Kruger WD. 2010. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PLoS Genet 6(1):e1000807. [PubMed: 20066033]  [MGI Ref ID J:156753]

Sonne SR; Bhalla VK; Barman SA; White RE; Zhu S; Newman TM; Prasad PD; Smith SB; Offermanns S; Ganapathy V. 2013. Hyperhomocysteinemia is detrimental to pregnancy in mice and is associated with preterm birth. Biochim Biophys Acta 1832(8):1149-58. [PubMed: 23579073]  [MGI Ref ID J:202401]

Sontag E; Nunbhakdi-Craig V; Sontag JM; Diaz-Arrastia R; Ogris E; Dayal S; Lentz SR; Arning E; Bottiglieri T. 2007. Protein phosphatase 2A methyltransferase links homocysteine metabolism with tau and amyloid precursor protein regulation. J Neurosci 27(11):2751-9. [PubMed: 17360897]  [MGI Ref ID J:119470]

Sood HS; Hunt MJ; Tyagi SC. 2003. Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia. Am J Physiol Lung Cell Mol Physiol 284(2):L333-41. [PubMed: 12533311]  [MGI Ref ID J:82063]

Tan H; Jiang X; Yang F; Li Z; Liao D; Trial J; Magera MJ; Durante W; Yang X; Wang H. 2006. Hyperhomocysteinemia inhibits post-injury reendothelialization in mice. Cardiovasc Res 69(1):253-62. [PubMed: 16226235]  [MGI Ref ID J:112793]

Tlili A; Jacobs F; de Koning L; Mohamed S; Bui LC; Dairou J; Belin N; Ducros V; Dubois T; Paul JL; Delabar JM; De Geest B; Janel N. 2013. Hepatocyte-specific Dyrk1a gene transfer rescues plasma apolipoprotein A-I levels and aortic Akt/GSK3 pathways in hyperhomocysteinemic mice. Biochim Biophys Acta 1832(6):718-28. [PubMed: 23429073]  [MGI Ref ID J:202433]

Veeranki S; Givvimani S; Pushpakumar S; Tyagi SC. 2014. Hyperhomocysteinemia attenuates angiogenesis through reduction of HIF-1alpha and PGC-1alpha levels in muscle fibers during hindlimb ischemia. Am J Physiol Heart Circ Physiol 306(8):H1116-27. [PubMed: 24585779]  [MGI Ref ID J:210741]

Vitvitsky V; Dayal S; Stabler S; Zhou Y; Wang H; Lentz SR; Banerjee R. 2004. Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia. Am J Physiol Regul Integr Comp Physiol 287(1):R39-46. [PubMed: 15016621]  [MGI Ref ID J:95775]

Wang H; Jiang X; Yang F; Gaubatz JW; Ma L; Magera MJ; Yang X; Berger PB; Durante W; Pownall HJ; Schafer AI. 2003. Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation. Blood 101(10):3901-7. [PubMed: 12506016]  [MGI Ref ID J:83449]

Wang L; Chen X; Tang B; Hua X; Klein-Szanto A; Kruger WD. 2005. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet 14(15):2201-8. [PubMed: 15972722]  [MGI Ref ID J:105060]

Wang L; Jhee KH; Hua X; DiBello PM; Jacobsen DW; Kruger WD. 2004. Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice. Circ Res 94(10):1318-24. [PubMed: 15105297]  [MGI Ref ID J:98869]

Wang X; Cui L; Joseph J; Jiang B; Pimental D; Handy DE; Liao R; Loscalzo J. 2012. Homocysteine induces cardiomyocyte dysfunction and apoptosis through p38 MAPK-mediated increase in oxidant stress. J Mol Cell Cardiol 52(3):753-60. [PubMed: 22227328]  [MGI Ref ID J:183716]

Weiss N; Zhang YY; Heydrick S; Bierl C; Loscalzo J. 2001. Overexpression of cellular glutathione peroxidase rescues homocyst(e)ine-induced endothelial dysfunction. Proc Natl Acad Sci U S A 98(22):12503-8. [PubMed: 11606774]  [MGI Ref ID J:131513]

Yamada H; Akahoshi N; Kamata S; Hagiya Y; Hishiki T; Nagahata Y; Matsuura T; Takano N; Mori M; Ishizaki Y; Izumi T; Kumagai Y; Kasahara T; Suematsu M; Ishii I. 2012. Methionine excess in diet induces acute lethal hepatitis in mice lacking cystathionine gamma-lyase, an animal model of cystathioninuria. Free Radic Biol Med 52(9):1716-26. [PubMed: 22387178]  [MGI Ref ID J:183247]

Yu M; Sturgill-Short G; Ganapathy P; Tawfik A; Peachey NS; Smith SB. 2012. Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia. Exp Eye Res 96(1):124-31. [PubMed: 22197750]  [MGI Ref ID J:191506]

Zhang D; Fang P; Jiang X; Nelson J; Moore JK; Kruger WD; Berretta RM; Houser SR; Yang X; Wang H. 2012. Severe hyperhomocysteinemia promotes bone marrow-derived and resident inflammatory monocyte differentiation and atherosclerosis in LDLr/CBS-deficient mice. Circ Res 111(1):37-49. [PubMed: 22628578]  [MGI Ref ID J:212656]

Zhang D; Jiang X; Fang P; Yan Y; Song J; Gupta S; Schafer AI; Durante W; Kruger WD; Yang X; Wang H. 2009. Hyperhomocysteinemia promotes inflammatory monocyte generation and accelerates atherosclerosis in transgenic cystathionine beta-synthase-deficient mice. Circulation 120(19):1893-902. [PubMed: 19858416]  [MGI Ref ID J:168131]

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

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    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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