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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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
Former Names B6C3Fe-a/a-Edaraddcr (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Outcross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: homozyogote x B6C3Fe a/a F1 then obligate heterozygote x heterozygote Species laboratory mouse Generation N34p Appearance
black
Related Genotype: a/a Edaraddcr/+ or a/a +/?
black, aberrent coat and teeth
Related Genotype: a/a Edaraddcr/Edaraddcr
Control Information
| Control | ||
|---|---|---|
| +/? from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
004184 STOCK Tg(Wap-HRAS)69Lln Chr YSJL-Edaraddcr-3J/J
Phenotype
Phenotype Information
assigned by genotype
Edaraddcr/Edaraddcr
B6C3Fe a/a-Edaraddcr/J
- behavior/neurological phenotype
- abnormal involuntary movement (MGI Ref ID J:5870)
- mutants twirl in the air when picked up by their tails; variable penetrance
- homeostasis/metabolism phenotype
- *normal* homeostasis/metabolism phenotype (MGI Ref ID J:29151)
- no aberrant bleeding time after tail vein nick
- abnormal lipid level (MGI Ref ID J:5870)
- sulfatides are increased in P21 mutant brains, however levels are normal at 17 months of age
- at 17 months of age, cerebroside levels are higher and cholesterol esters are found in brains
- nervous system phenotype
- abnormal brain morphology (MGI Ref ID J:5870)
- 33% have grossly malformed brains at P21
- brains contain increased levels of sulfatides at P21 but not at older ages and increased cerebroside and cholesterl ester levels in older mice
- abnormal cerebellum morphology (MGI Ref ID J:5870)
- abnormalities of the cerebellum include abnormal shape and cavitation
- many mutants exhibit an abnormal lateral fissure parallel to the median cerebral fissure
- demyelination (MGI Ref ID J:5870)
- in myelinated areas, especially in the cerebellum, holes are present which seem to be the result of swollen myelin sheaths and the disarranged myelin appears in patches, not diffusely
- presence of cholesterol esters in the brain indicates demyelination
- reproductive system phenotype
- reduced fertility (MGI Ref ID J:5870)
- respiratory system phenotype
- abnormal respiratory mucosa morphology (MGI Ref ID J:119848)
- at P7 and P14, mice lack submucosal glands
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Edaraddcr/Edaraddcr
involves: C57BL/6 * C3H
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:13040)
- 40% die before 10 days of age
- only approximately 22-24% of homozygotes survived to wean age
- supplementation of the mothers copper intake during pregnancy and lactation can improve viability so that 50% of homozygotes survive to wean age
- while only 22 to 24% of homozygotes survive to 30 days of age, supplementing the dam's diet with high levels of copper increased survival at 30 days of age to 50%
- life span-post-weaning/aging
- premature death (MGI Ref ID J:13040)
- mortality increases slightly up to the time of weaning and is very high the week after weaning
- growth/size phenotype
- decreased body weight (MGI Ref ID J:13040)
- already at birth, mutants are 5% lighter than controls; 20-30% lighter at 3 weeks
- postnatal growth retardation (MGI Ref ID J:13040)
- slower growth
- craniofacial phenotype
- abnormal outer ear morphology (MGI Ref ID J:13040)
- at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
- abnormal tooth morphology (MGI Ref ID J:12999)
- abnormal enamel morphology (MGI Ref ID J:12999)
- incisors are more widely covered with enamel, even if normal sized
- abnormal incisor morphology (MGI Ref ID J:12999)
- incisors may be smaller and sometimes an incisor is lost
- abnormal molar crown morphology (MGI Ref ID J:12999)
- cusps of all molars are reduced but the pattern is different from that seen in homozygous Lrp6Cd mutants
- decreased molar number (MGI Ref ID J:12999)
- third molars are sometimes absent
- small molars (MGI Ref ID J:12999)
- reduction of molars tends to be more extreme in the first than in the second and third molars
- limbs/digits/tail phenotype
- kinked tail (MGI Ref ID J:64273)
- tail has sharp flexures near the tip
- young mice (5-14 days) have kinks or undulations along more than half the length of the tail; as mice age, the kinks straighten out and are confined to the extreme tip
- skin/coat/nails phenotype
- abnormal coat/ hair morphology (MGI Ref ID J:13040)
- absence of 2 or 3 of the 5 sensory hairs on each side of the face; lack the hair situated behind the eye, one of the two near the angle of the jaw, and one of the two above the eye
- scanning electron micrographs show that hairs from adults have alternate narrowing and thickening (monilethrix), twisting along the axis (pili torti), or rough nodular shafts with frayed ends (trichorrhexis nodosa)
- abnormal coat/hair pigmentation (MGI Ref ID J:13040)
- color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
- increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age
- abnormal hair follicle development (MGI Ref ID J:13040)
- formation of new hair follicles is suppressed between E12.5 and E17, and again from the time of birth onwards
- the growth rate of those follicles that do form is slowed
- first period of follicle suppression accounts for the absence of guard hairs and the second period for the absence of zigzags
- sensory hair follicles are sometimes poorly developed; the first stage of the development of the post-orbital sinus follicle is normal, however after E12.5, further development is inhibited and the follicle regresses
- the diminished number of hair follicles in homozygous 6 day old pups is increased toward normal numbers by feeding the mother a high copper diet
- underdeveloped hair follicles (MGI Ref ID J:5568)
- at 6 days of age the number of hair follicles is greatly reduced and there are few hairs emerging from the skin surface, but providing the mother with supplemental dietary copper during pregnancy and lactation can increase the number of hair follicles
- abnormal hair growth (MGI Ref ID J:13040)
- delayed hair appearance (MGI Ref ID J:13040)
- growth of hair follicles is slower and the appearance of hair rudiments is delayed by about 2 days
- sinus follicles that do form, grow more slowly and their hairs erupt later than in wild-type
- focal hair loss (MGI Ref ID J:13040)
- no hair on tail or behind ears
- loss of cilia (MGI Ref ID J:13040)
- reduced number of eyelashes, with both the longest and shortest lashes absent
- short hair (MGI Ref ID J:13040)
- hairs on the pinna are shorter and thinner
- sparse hair (MGI Ref ID J:13040)
- hair density is reduced
- abnormal hair texture (MGI Ref ID J:13040)
- coat is thin and has an abnormal texture which makes it look ungroomed
- abnormal hair types (MGI Ref ID J:13040)
- mutants contain only one type of hair resembling an abnormal awl; the number of rows of air-cells is not constant throughout the length of each hair and the diameter of the hair varies, regions with two rows of cells alternate with narrower regions having only one row and with broader regions having three rows
- absent guard hair (MGI Ref ID J:13040)
- lack guard hairs in the adult coat
- absent zigzag hairs (MGI Ref ID J:13040)
- lack zigzag hairs in the adult coat
- decreased hair follicle number (MGI Ref ID J:13040)
- the supra-orbital tubercle contains only one follicle instead of two as in wild-type at E13.5
- abnormal skin morphology (MGI Ref ID J:13040)
- no tail rings
- abnormal epidermal layer morphology (MGI Ref ID J:5568)
- at 6 days of age the skin has a smooth surface, but providing supplemental dietary copper to the mother during pregnancy and lactation can result in a rough epipermal surface in 6 day old pups
- thin dermal layer (MGI Ref ID J:13040)
- abnormal skin pigmentation (MGI Ref ID J:13040)
- delay in skin pigmentation due to delayed hair formation (by about 2 days)
- pallor (MGI Ref ID J:5680)
- the pallid and smooth skin of homozygotes can be darkened and made more normal in texture by feeding the mother a high copper diet
- thin skin (MGI Ref ID J:13040)
- thin skin is seen soon after birth and persists throughout life
- the skin is thinner than normal and this can be diminished by giving the mother supplemental dietary copper during pregnancy and lactation
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:13040)
- color pattern of agouti is modified; the back is blacker, the flanks are yellower than normal
- increased maternal dietary copper during pregnancy and lactation can darken the coat color of homozygous pups assessed at 6 days of age
- abnormal skin pigmentation (MGI Ref ID J:13040)
- delay in skin pigmentation due to delayed hair formation (by about 2 days)
- respiratory system phenotype
- abnormal respiration (MGI Ref ID J:64273)
- frequently exhibit respiratory disorders
- respiratory disorder is characterized by snuffling and is caused by an accumulation of hairs from the body in the nasal passages
- vision/eye phenotype
- abnormal cornea morphology (MGI Ref ID J:13040)
- develop corneal ulceration in late life
- corneal opacity (MGI Ref ID J:13040)
- later in life, the cornea becomes opaque
- abnormal eyelid morphology (MGI Ref ID J:64273)
- eyelids are abnormal leading to corneal ulceration in late life
- absent meibomian glands (MGI Ref ID J:13040)
- loss of cilia (MGI Ref ID J:13040)
- reduced number of eyelashes, with both the longest and shortest lashes absent
- narrow eye opening (MGI Ref ID J:13040)
- the aperture made by the eyelids is smaller
- hearing/vestibular/ear phenotype
- abnormal outer ear morphology (MGI Ref ID J:13040)
- at about 10-15 days of age, the ears are folded in a peculiar way and the pinnae appear to be drawn up toward the mid-dorsal line
- behavior/neurological phenotype
- abnormal maternal nurturing (MGI Ref ID J:13040)
- mothering ability is somewhat reduced
- reproductive system phenotype
- decreased litter size (MGI Ref ID J:13040)
- litter size is slightly smaller
- reduced female fertility (MGI Ref ID J:13040)
- endocrine/exocrine gland phenotype
- absent meibomian glands (MGI Ref ID J:13040)
- hematopoietic system phenotype
- anemia (MGI Ref ID J:5680)
- anemia with low hemoglobin levels, low red blood cell number, and low packed cell volume is found at 21 days of age
- nervous system phenotype
- abnormal myelination (MGI Ref ID J:5680)
- at 60 days of age homozygotes have less myelination
- demyelination (MGI Ref ID J:5680)
- demyelination is found in 4 of 5 homozygotes over 1 year of age, and at 17 months of age there is focal degeneration in cerebellar white matter
Edaraddcr/Edaraddcr
involves: C57BL/6J
- skin/coat/nails phenotype
- abnormal hair growth (MGI Ref ID J:5774)
- tail grafts from embryonic day 15 tails shows that the site of action of crinkled is in the epidermis not the dermis
This mouse can be used to support research in many areas including:Edaraddcr related
Apoptosis Research
Death Receptors
Dermatology Research
Skin and Hair Texture Defects
Mouse/Human Gene Homologs
hypohidrotic ectodermal dysplasia
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Edaraddcr | ||
|---|---|---|---|
| Allele Name | crinkled | ||
| Allele Type | Chemically induced (other) | ||
| Common Name(s) | cr; | ||
| Gene Symbol and Name | Edaradd, EDAR (ectodysplasin-A receptor)-associated death domain | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | 1810032E07Rik; 5830469M23Rik; ED3; EDA3; RGD1564010; RIKEN cDNA 1810032E07 gene; RIKEN cDNA 5830469M23 gene; cr; crinkled; | ||
| General Note | Appeared in the progeny of a male treated with nitrogen mustard. Homozygotes have coats that are thinner than normal and contain only one type of hair resembling an abnormal awl, rather than the four types of hair of the normal coat. There is a bald patch behind the ears, bald tail, kinks at the tail tip, absence of Meibomian glands, a respiratory disorder, modification of the agouti pattern (J:13040), abnormal molars and incisors (J:12999, J:5018, J:5139), and probably abnormalities of many exocrine glands (J:5193). Viability and breeding performance are somewhat reduced (J:13040). Myelin abnormalities have been described in the brains of old crinkled mice (J:5870). Hair follicle initiation is restricted to the period between 17 days of gestation and birth, rather than extending from 14 days of gestation to several days after birth as in normal mice (J:13040). Heterozygotes have normal coats, but many have slight abnormalities of the upper molars (J:5018). The site of gene action inskin of cr/cr mice has been shown, by means of dermal-epidermal recombination grafts of embryonic skin, to be in the epidermis (J:5774). The level of copper in liver is low in young cr/cr mice and the level of activity in liver of the copper-containing enzyme superoxide dismutase (SOD) is also low in both young and adult mice (J:6230). Copper supplementation of the diet of mothers during pregnancy and lactation increases survival of homozygotes, improves coat development, and raises SOD activityand liver copper concentration to normal (J:5568, J:6230). | ||
| Molecular Note | PCR analysis of genomic DNA showed that the entire coding region of the gene is deleted. Northern analysis failed to detect transcript in skin RNA from homozygous mutant animals at E18.5. [MGI Ref ID J:73357] [MGI Ref ID J:75381] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Headon DJ; Emmal SA; Ferguson BM; Tucker AS; Justice MJ; Sharpe PT; Zonana J; Overbeek PA. 2001. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414(6866):913-6. [PubMed: 11780064] [MGI Ref ID J:73357]
Edaraddcr relatedFalconer DS. 1949. cr - crinkled Mouse News Lett 1S:4. [MGI Ref ID J:64273]
Falconer DS; Fraser AS; King JWB. 1951. The genetics and development of "crinkled", a new mutant in the house mouse. J Genet 50:324-344. [MGI Ref ID J:13040]
Gruneberg H. 1965. Genes and genotypes affecting the teeth of the mouse. J Embryol Exp Morphol 14(2):137-59. [PubMed: 5893447] [MGI Ref ID J:12999]
Gruneberg H. 1971. The glandular aspects of the tabby syndrome in the mouse. J Embryol Exp Morphol 25(1):1-19. [PubMed: 5548211] [MGI Ref ID J:5193]
Gruneberg H. 1966. The molars of the tabby mouse, and a test of the 'single-active X-chromosome' hypothesis. J Embryol Exp Morphol 15(2):223-44. [PubMed: 5959976] [MGI Ref ID J:5018]
Headon DJ; Emmal SA; Ferguson BM; Tucker AS; Justice MJ; Sharpe PT; Zonana J; Overbeek PA. 2001. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414(6866):913-6. [PubMed: 11780064] [MGI Ref ID J:73357]
Hurley LS. 1976. Interaction of genes and metals in development. Fed Proc 35(11):2271-5. [PubMed: 133823] [MGI Ref ID J:5680]
Hurley LS; Bell LT. 1975. Amelioration by copper supplementation of mutant gene effects in the crinkled mouse. Proc Soc Exp Biol Med 149(4):830-4. [PubMed: 1166079] [MGI Ref ID J:5568]
Keen CL; Hurley LS. 1979. Superoxide dismutase activity in the crinkled mutant mouse: ameliorative effects of dietary copper supplementation. Proc Soc Exp Biol Med 162(1):152-6. [PubMed: 504225] [MGI Ref ID J:6230]
Langton AK; Herrick SE; Headon DJ. 2008. An extended epidermal response heals cutaneous wounds in the absence of a hair follicle stem cell contribution. J Invest Dermatol 128(5):1311-8. [PubMed: 18037901] [MGI Ref ID J:135502]
Mayer TC; Miller CK; Green MC. 1977. Site of action of the crinkled (cr) locus in the mouse. Dev Biol 55(2):397-401. [PubMed: 320066] [MGI Ref ID J:5774]
Mou C; Jackson B; Schneider P; Overbeek PA; Headon DJ. 2006. Generation of the primary hair follicle pattern. Proc Natl Acad Sci U S A 103(24):9075-80. [PubMed: 16769906] [MGI Ref ID J:111052]
Ohazama A; Courtney JM; Tucker AS; Naito A; Tanaka S; Inoue J; Sharpe PT. 2004. Traf6 is essential for murine tooth cusp morphogenesis. Dev Dyn 229(1):131-5. [PubMed: 14699584] [MGI Ref ID J:87318]
Rao MS; Jaszczak E; Landis SC. 1994. Innervation of footpads of normal and mutant mice lacking sweat glands. J Comp Neurol 346(4):613-25. [PubMed: 7983247] [MGI Ref ID J:19910]
Rawlins EL; Hogan BL. 2005. Intercellular growth factor signaling and the development of mouse tracheal submucosal glands. Dev Dyn 233(4):1378-85. [PubMed: 15973734] [MGI Ref ID J:119848]
Sofaer JA. 1979. Additive effects of the genes tabby and crinkled on tooth size in the mouse. Genet Res 33(2):169-74. [PubMed: 478295] [MGI Ref ID J:151073]
Sofaer JA. 1969. Aspects of the tabby-crinkled-downless syndrome. I. The development of tabby teeth. J Embryol Exp Morphol 22(2):181-205. [PubMed: 5361554] [MGI Ref ID J:5138]
Sofaer JA. 1969. Aspects of the tabby-crinkled-downless syndrome. II. Observations on the reaction to changes of genetic background. J Embryol Exp Morphol 22(2):207-27. [PubMed: 5361555] [MGI Ref ID J:5139]
Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton. [MGI Ref ID J:30359]
Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584] [MGI Ref ID J:29151]
Theriault LL; Dungan DD; Simons S; Keen CL; Hurley LS. 1977. Lipid and myelin abnormalities of brain in the crinkled mouse. Proc Soc Exp Biol Med 155(4):549-53. [PubMed: 896803] [MGI Ref ID J:5870]
Yan M; Zhang Z; Brady JR; Schilbach S; Fairbrother WJ; Dixit VM. 2002. Identification of a Novel Death Domain-Containing Adaptor Molecule for Ectodysplasin-A Receptor that Is Mutated in crinkled Mice. Curr Biol 12(5):409-13. [PubMed: 11882293] [MGI Ref ID J:75381]
Health & husbandry
Health & Colony Maintenance Information
Colony Maintenance
Mating System Outcross-Intercross (Female x Male) 01-MAR-06 TJL Breeding Summary: homozyogote x B6C3Fe a/a F1 then obligate heterozygote x heterozygote
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| +/? from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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See Terms of Use tab for General Terms and Conditions
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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.Ordering and Purchasing Information
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