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Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F51p
Generation DefinitionsAppearance
pigmented, without hair
Related Genotype: a/a Hrhr/HrhrImportant Note
This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by three months of age (Johnson et al. 2000).Description
Mice homozygous for the hr spontaneous mutation have a higher incidence and earlier onset of leukemia, reducible by virus-specific antibody. Deficiency of splenic T helper cells (Ly-1+) may account for low cellular immune response of homozygous mutant mice. The coat is normal on hr/hr mice up to 10 days but then hair is lost from the follicle. Waves of hair growth with few thin fuzzy hairs ocur at monthly intervals for some time but homozygotes eventually become continuously hairless. Vibrissae are repeatedly regrown and shed, becoming more abnormal with age. Toenails are long and curved. There is hyperkeratosis of stratified epithelium and the upper part of hair canals beginning at 14 days. Hair club formation is abnormal. Cysts form from the hyperkeratotic upper part of hair canals and sheaths of abnormal follicles stranded in dermis. Some cysts also form from sebaceous glands. All cysts undergo sebaceous transformation and later keratinization. Black juvenile hair coat and tanning is a dominant trait for this SKH2 substrain. This mutant is for research on ultraviolet radiation induced melanogenesis.
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
Strains carrying Cdh23ahl allele
001137 129P1/ReJ 000690 129P3/J 000691 129X1/SvJ 000646 A/J 000647 A/WySnJ 003070 ALR/LtJ 003072 ALS/LtJ 004502 B6;AKR-Lxl2/GrsrJ 001026 BALB/cByJ 000653 BUB/BnJ 005494 C3.129S1(B6)-Grm1rcw/J 000664 C57BL/6J 004764 C57BL/6J-Cdh23v-8J/J 003129 C57BL/6J-Epha4rb-2J/GrsrJ 004820 C57BL/6J-Kcne12J/J 004703 C57BL/6J-Kcnq2Nmf134/J 004811 C57BL/6J-nmf110/J 004812 C57BL/6J-nmf111/J 004747 C57BL/6J-nmf118/J 004656 C57BL/6J-nmf88/J 004391 C57BL/6J-Chr 13A/J/NaJ 004385 C57BL/6J-Chr 7A/J/NaJ 000662 C57BLKS/J 000667 C57BR/cdJ 000668 C57L/J 000669 C58/J 010614 CBACa.B6-Cdh23ahl/Kjn 000657 CE/J 000670 DBA/1J 001140 DBA/1LacJ 000671 DBA/2J 007048 DBA/2J-Gpnmb+/SjJ 002106 KK/HlJ 000675 LG/J 000676 LP/J 000677 MA/MyJ 001976 NOD/ShiLtJ 002050 NOR/LtJ 000679 P/J 002747 SENCARB/PtJ 003392 STOCK Crb1rd8/J View Strains carrying Cdh23ahl (41 strains)
Strains carrying Hrhr allele
001737 B6.Cg-Hrhr H2-T18a/J 002922 D2.HRS-Hrhr/J 000673 HRS/J 001103 HRS/J-Hrhr Esdb/+ Esdb/J 000147 WLHR/LeJ View Strains carrying Hrhr (5 strains)
Strains carrying mt-Trm2 allele
003070 ALR/LtJ View Strains carrying mt-Trm2 (1 strain)
Strains carrying other alleles of Cdh23
002552 B6(V)-Cdh23v-2J/J 002756 B6.CAST-Cdh23Ahl+/Kjn 010615 B6.CBACa-Cdh23CBA/CaJ/Kjn 002432 B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J 004764 C57BL/6J-Cdh23v-8J/J 004819 C57BL/6J-Cdh23v-9J/J 005016 CByJ;B6-Cdh23v-10J/J 000275 V/LeJ View Strains carrying other alleles of Cdh23 (8 strains)
Strains carrying other alleles of Hr
007621 B6.129S6-Hrtm1Cct/J 000758 C57BL/6J-Hbbp Hrrh-7J/J 000266 RHJ/Le 001591 RHJ/LeJ View Strains carrying other alleles of Hr (4 strains)
Strains carrying other alleles of mt-Tr
000646 A/J 003072 ALS/LtJ 001976 NOD/ShiLtJ 000684 NZB/BlNJ View Strains carrying other alleles of mt-Tr (4 strains)
JAX® NOTES, January 1989; 436. Phenotypic abnormalities in hr-locus mutants.
View Phenotypic Data
Phenotypic Data
Mouse Phenome Database
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Alopecia Universalis Congenita; ALUNC (HR)
Atrichia with Papular Lesions; APL (HR)
Deafness, Autosomal Recessive 12; DFNB12 (CDH23)
Hypotrichosis 4; HYPT4 (HR)
Usher Syndrome, Type ID; USH1D (CDH23)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Hrhr/Hrhr
Background Not Specified
- endocrine/exocrine gland phenotype
- abnormal mammary gland morphology
- sebaceous gland atrophy (MGI Ref ID J:2409)
- behavior/neurological phenotype
- abnormal nursing
- failure (MGI Ref ID J:2409)
- integument phenotype
- abnormal mammary gland morphology
- abnormal skin morphology
- thickened cutis (MGI Ref ID J:2409)
- deformed nails
- curved (MGI Ref ID J:2409)
- hairless (MGI Ref ID J:2409)
- beginning ~15 days of age and progressing from nose back (MGI Ref ID J:2405)
- sebaceous gland atrophy (MGI Ref ID J:2409)
Hrhr/Hrhr
HRS/J
- hearing/vestibular/ear phenotype
- absent linear vestibular evoked potential
- VESPs are absent at the maximum stimulus intensity used (MGI Ref ID J:116914)
- tumorigenesis
- leukemia
- increased incidence (MGI Ref ID J:5726)
- increased incidence (MGI Ref ID J:5908)
- at 8 to 10 months of age 45% of homozygotes have lymphoid leukemia, compared with only 1% in heterozygotes, and approximately 72% of these homozygotes develop myeloid leukemia later in life up to 18 months of age (MGI Ref ID J:24786)
- hematopoietic system phenotype
- decreased T cell number
- of CD5+ T cells (MGI Ref ID J:6087)
- decreased T cell proliferation
- to alloantigens by T helper cells (MGI Ref ID J:6375)
- increased macrophage cell number
- although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes (MGI Ref ID J:150402)
- immune system phenotype
- decreased T cell number
- of CD5+ T cells (MGI Ref ID J:6087)
- decreased T cell proliferation
- to alloantigens by T helper cells (MGI Ref ID J:6375)
- increased macrophage cell number
- although heterozygotes and homozygotes have the same total number of peritoneal cells, the percentage expressing Mac-1 is an average of 30% in homozygotes versus an average of 14% in heterozygotes (MGI Ref ID J:150402)
- cellular phenotype
- decreased T cell proliferation
- to alloantigens by T helper cells (MGI Ref ID J:6375)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Cdh23ahl relatedNeurobiology Research
Hearing Defects
Age related hearing loss
Sensorineural Research
Hearing Defects
Age related hearing loss
Hrhr relatedNeurobiology Research
Hearing Defects
Age related hearing loss
Sensorineural Research
Hearing Defects
Age related hearing loss
Cancer Research
Increased Tumor Incidence
Leukemia
Leukemia: lymphocytic
Lymphomas
Lymphomas: thymic
Skin Cancers
Skin Cancers: Induced
Toxicology
Cardiovascular Research
Diet-Induced Atherosclerosis
Relatively Resistant
Dermatology Research
Skin and Hair Texture Defects
Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Research Tools
Toxicology Research
drug/compound testing
| Allele Symbol | Cdh23ahl | ||
|---|---|---|---|
| Allele Name | age related hearing loss 1 | ||
| Allele Type | QTL | ||
| Common Name(s) | Cdh23753A; mdfw; | ||
| Strain of Origin | multiple strains | ||
| Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 4930542A03Rik; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; sals; salsa; v; waltzer; | ||
| Molecular Note | Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has identified an association between ahl and a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7 and reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: C3H/HeSnJ, I/LnJ,YBR/Ei, MRL/MpJ. [MGI Ref ID J:86905] | ||
| Allele Symbol | Hrhr | ||
| Allele Name | hairless | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | hr; | ||
| Gene Symbol and Name | Hr, hairless | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ALUNC; AU; HSA277165; MUHH; MUHH1; N; ba; baldy; bldy; rh; rh-bmh; rhino-bald Mill Hill; | ||
| Molecular Note | The hr allele is the result of a retroviral integration. Insertion of murine leukemia proviral sequences into intron 6 results in aberrant splicing of the gene. [MGI Ref ID J:19624] [MGI Ref ID J:92053] [MGI Ref ID J:9252] | ||
| Allele Symbol | mt-Trm2 | ||
| Allele Name | mutation 2 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | 9A; | ||
| Strain of Origin | various | ||
| Gene Symbol and Name | mt-Tr, mitochondrially encoded tRNA arginine | ||
| Chromosome | MT | ||
| Gene Common Name(s) | TrnR tRNA; tRNA; tRNA-Arg; | ||
| General Note | This polymorphism is present in ALR/Lt, NOD/ShiLtDvs, and SKH2/J. A variant with 10 adenines is found in A/J, ALS/Lt, NOD/ShiLtJ and NZB/B1NJ. | ||
| Molecular Note | The adenine repeat in the D stem is polymorphic with 9 adenines in this allele. [MGI Ref ID J:67312] [MGI Ref ID J:97969] | ||
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Jiang YJ; Lu B; Tarling EJ; Kim P; Man MQ; Crumrine D; Edwards PA; Elias PM; Feingold KR. 2010. Regulation of ABCG1 expression in human keratinocytes and murine epidermis. J Lipid Res 51(11):3185-95. [PubMed: 20675829] [MGI Ref ID J:165604]
Johnson DA; Meier H. 1981. Immune responsiveness of HRS/J mice to syngeneic lymphoma cells. J Immunol 127(2):461-4. [PubMed: 6265551] [MGI Ref ID J:6535]
Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133] [MGI Ref ID J:116914]
Jung SK; Lee KW; Byun S; Lee EJ; Kim JE; Bode AM; Dong Z; Lee HJ. 2010. Myricetin inhibits UVB-induced angiogenesis by regulating PI-3 kinase in vivo. Carcinogenesis 31(5):911-7. [PubMed: 20008033] [MGI Ref ID J:159760]
Kajiya K; Hirakawa S; Detmar M. 2006. Vascular endothelial growth factor-A mediates ultraviolet B-induced impairment of lymphatic vessel function. Am J Pathol 169(4):1496-503. [PubMed: 17003502] [MGI Ref ID J:113381]
Kato M; Ohgami N; Kawamoto Y; Tsuzuki T; Hossain K; Yanagishita T; Ohshima Y; Tsuboi H; Yamanoshita O; Matsumoto Y; Takahashi M; Nakashima I. 2007. Protective effect of hyperpigmented skin on UV-mediated cutaneous cancer development. J Invest Dermatol 127(5):1244-9. [PubMed: 17159911] [MGI Ref ID J:121091]
Kato M; Takeda K; Kawamoto Y; Tsuzuki T; Kato Y; Ohno T; Hossain K; Iftakhar-E-Khuda I; Ohgami N; Isobe K; Takahashi M; Nakashima I. 2006. Novel Hairless RET-Transgenic Mouse Line with Melanocytic Nevi and Anagen Hair Follicles. J Invest Dermatol 126(11):2547-50. [PubMed: 16778787] [MGI Ref ID J:113399]
Kaya G; Tran C; Sorg O; Hotz R; Grand D; Carraux P; Didierjean L; Stamenkovic I; Saurat JH. 2006. Hyaluronate fragments reverse skin atrophy by a CD44-dependent mechanism. PLoS Med 3(12):e493. [PubMed: 17177600] [MGI Ref ID J:134166]
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Lou YR; Peng QY; Li T; Medvecky CM; Lin Y; Shih WJ; Conney AH; Shapses S; Wagner GC; Lu YP. 2011. Effects of high-fat diets rich in either omega-3 or omega-6 fatty acids on UVB-induced skin carcinogenesis in SKH-1 mice. Carcinogenesis 32(7):1078-84. [PubMed: 21525235] [MGI Ref ID J:173643]
Lu YP; Lou YR; Yen P; Mitchell D; Huang MT; Conney AH. 1999. Time course for early adaptive responses to ultraviolet B light in the epidermis of SKH-1 mice. Cancer Res 59(18):4591-602. [PubMed: 10493513] [MGI Ref ID J:57607]
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Panteleyev AA; van der Veen C; Rosenbach T; Muller-Rover S; Sokolov VE ; Paus R. 1998. Towards defining the pathogenesis of the hairless phenotype. J Invest Dermatol 110(6):902-7. [PubMed: 9620297] [MGI Ref ID J:47743]
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Pirinen E; Kuulasmaa T; Pietila M; Heikkinen S; Tusa M; Itkonen P; Boman S; Skommer J; Virkamaki A; Hohtola E; Kettunen M; Fatrai S; Kansanen E; Koota S; Niiranen K; Parkkinen J; Levonen AL; Yla-Herttuala S; Hiltunen JK; Alhonen L; Smith U; Janne J; Laakso M. 2007. Enhanced polyamine catabolism alters homeostatic control of white adipose tissue mass, energy expenditure, and glucose metabolism. Mol Cell Biol 27(13):4953-67. [PubMed: 17485446] [MGI Ref ID J:122759]
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Roelandt T; Giddelo C; Heughebaert C; Denecker G; Hupe M; Crumrine D; Kusuma A; Haftek M; Roseeuw D; Declercq W; Feingold KR; Elias PM; Hachem JP. 2009. The 'caveolae brake hypothesis' and the epidermal barrier. J Invest Dermatol 129(4):927-36. [PubMed: 19005485] [MGI Ref ID J:150227]
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Sand JM; Aziz MH; Dreckschmidt NE; Havighurst TC; Kim K; Oberley TD; Verma AK. 2010. PKCepsilon overexpression, irrespective of genetic background, sensitizes skin to UVR-induced development of squamous-cell carcinomas. J Invest Dermatol 130(1):270-7. [PubMed: 19626035] [MGI Ref ID J:159584]
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Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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.
Embryos
Price (US dollars $) Frozen Embryo $1600.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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 11 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).
| Pricing for International shipping destinations |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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.
Embryos
Price (US dollars $) Frozen Embryo $2080.00 Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryopreserved Embryos
Available to most shipping destinations1
This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.
1 Shipments cannot be made to Australia due to Australian government import restrictions.
2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.- 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 11 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.
| Control | ||
|---|---|---|
| None Available | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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.
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.
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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.