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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names B6 x STOCK a p Hps5ru2 Ednrbs/J (Changed: 11-FEB-08 ) B6 x STOCK a p ru2 Ednrbs (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation F27N1F1N1p Development
The ruby-eye 2 mutant stock containing pink-eye (Oca2p) and piebald spotting (Ednrbs) was imported from Dr. B. Cattanach at Harwell in 1972. This strain was maintained by sibling matings and cryopreserved in 1982 by mating Oca2p Hps5ru2/Oca2p Hps5ru2 Ednrbs/Ednrbs males at generation F27N1F1 to C57BL/6J females.
Related Strains
View Strains carrying Ednrbs (4 strains)
Strains carrying Oca2p allele
000004 ABP/LeJ 001059 B6By.Cg-Oca2p/J 000619 FS/EiJ 000306 STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J 001618 STOCK Oca2p/Oca2p Prop1df/J
003295 B6;129-Ednrbtm1Ywa/J 000308 SSL/LeJ 004711 STOCK Ednrbs-52Pub
000541 B6.D2-Hps5ru2-hz/J 000542 C57BL/6J-Hps5ru2-J/J
000090 129S1/Sv-Oca2+ Tyr+ KitlSl-J/J 000091 129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J 001279 129T1/Sv-Oca2+ Tyrc-ch-Aft/J 000822 B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J 002460 C3H/HeJ-Oca2p-J Is(7;1)40H/J 000513 C3H/HeJ-Oca2p-J/J 001136 C57BL/6J-Oca2p-un+2J/J 001506 C57BL/6J-Oca2p-un+3J/J 001810 C57BL/6J-Oca2p-un+4J/J 001513 C57BL/6J-Oca2p-un+5J/J 001499 C57BL/6J-Oca2p-un+6J/J 001033 C57BL/6J-Oca2p-un+J/J 000028 C57BL/6J-Oca2p-un/J 000494 J.Cg-Oca2+ Tyr+ Lystbg/J 001584 STOCK Oca2p-J/Oca2p-bs/J 001585 STOCK Oca2p-d/Oca2p-25H/J 000823 STOCK Oca2p-d/Oca2p-6H/J 001747 STOCK Oca2p-d/Oca2p-cp/J
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Hps5ru2/Hps5ru2
C57BLThis mouse can be used to support research in many areas including:Ednrbs related
Hps5ru2 relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Oca2p relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome
Dermatology Research
Color and White Spotting Defects
Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2
Neurobiology Research
Angelman syndrome
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Ednrbs | ||
|---|---|---|---|
| Allele Name | piebald | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | s; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s; | ||
| General Note | Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin. Homozygotes show irregular white spotting, the amount of which is greatly influenced by minor modifying genes (J:12952). Homozygotes have dark eyes. The white areas of the coat are completely lacking in melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).Homozygotes may develop megacolon which is always associatedwith lack of ganglion cells in the distal portion of the colon. The incidence of megacolon is also affected by minor modifying genes (J:15014). Pigment cells and enteric ganglion cells of the colon are both derived from the neural crest, and Mayer (J:12725) has shown by explantation of embryonic tissues that the defect leading to white spotting is in the neural crest rather than in the skin. The defect probably consists of failure of pigment cells to differentiate in certain tissue environments rather than in failure to migrate (J:5036). The distribution of white areas in the skin and other organs is probably due to normal regional differences in these tissues in capacity to support pigmentation and not to regional heterogeneity among the pigment cells themselves (J:5220, J:5036, J:5060, J:5782).The piebald mutation was shown to be linked closely with Hr (J:299), later mapped to Chr 14 (J:52911). The localization has been refined in studies of induced mutations, using an intersubspecific backcross (J:16291). | ||
| Molecular Note | This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size. [MGI Ref ID J:110573] [MGI Ref ID J:22206] [MGI Ref ID J:56133] | ||
| Allele Symbol | Hps5ru2 | ||
| Allele Name | ruby-eye 2 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ru2; | ||
| Strain of Origin | C57BL | ||
| Gene Symbol and Name | Hps5, Hermansky-Pudlak syndrome 5 homolog (human) | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | AI646796; AIBP63; AL022647; C85120; KIAA1017; expressed sequence AI646796; expressed sequence AL022647; expressed sequence C85120; haze; hz; maroon; mr; ru-2; ru2; ruby eye 2; ruby-eye 2; | ||
| Molecular Note | A spontaneous mutant that arose in a substrain of C57BL. An insertion of a 1.0 kb fragment of H2f2a that contains an 8 nt duplication at the 3' end was identified immediately upstream of codon 868 (exon 18). [MGI Ref ID J:81444] | ||
| Allele Symbol | Oca2p | ||
| Allele Name | pink-eyed dilution | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | p; | ||
| Strain of Origin | Asiatic fancy mice | ||
| Gene Symbol and Name | Oca2, oculocutaneous albinism II | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution; | ||
| General Note |
p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782). Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. \R(J:5346) found the structure to be normal, with premature termination of the melanizationprocess. In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988). A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600). | ||
| 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
Optimizing PCR Protocols
References
References
Additional References
Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288] [MGI Ref ID J:81444]
Ednrbs relatedHps5ru2 relatedBIELSCHOWSKY M; SCHOFIELD GC. 1962. Studies on megacolon in piebald mice. Aust J Exp Biol Med Sci 40:395-403. [PubMed: 13968171] [MGI Ref ID J:12312]
BILLINGHAM RE; SILVERS WK. 1960. The melanocytes of mammals. Q Rev Biol 35:1-40. [PubMed: 13800713] [MGI Ref ID J:15014]
Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM. 2004. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 13(19):2289-301. [PubMed: 15294878] [MGI Ref ID J:93622]
Carrasquillo MM; McCallion AS; Puffenberger EG; Kashuk CS; Nouri N; Chakravarti A. 2002. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32(2):237-44. [PubMed: 12355085] [MGI Ref ID J:112429]
Deol MS. 1971. Spotting genes and internal pigmentation patterns in the mouse. J Embryol Exp Morphol 26(1):123-33. [PubMed: 5565074] [MGI Ref ID J:5220]
Dunn LC. 1920. Types of white spotting in mice Am Naturalist 54:465-95. [MGI Ref ID J:23183]
Dunn LC; Charles DR. 1937. Studies on Spotting Patterns I. Analysis of Quantitative Variations in the Pied Spotting of the House Mouse. Genetics 22(1):14-42. [PubMed: 17246828] [MGI Ref ID J:12952]
Dunn LC; Mohr J. 1952. An Association of Hereditary Eye Defects with White Spotting. Proc Natl Acad Sci U S A 38(10):872-5. [PubMed: 16589191] [MGI Ref ID J:13123]
Eicher EM; Green MC. 1972. The T6 translocation in the mouse: its use in trisomy mapping, centromere localization, and cytological identification of linkage group 3. Genetics 71(4):621-32. [PubMed: 5055128] [MGI Ref ID J:5291]
Hauschka TS; Jacobs BB; Holdridge BA. 1968. Recessive yellow and its interaction with belted in the mouse. J Hered 59(6):339-41. [PubMed: 5713933] [MGI Ref ID J:5110]
Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76. [PubMed: 8001159] [MGI Ref ID J:22206]
Koide T; Moriwaki K; Uchida K; Mita A; Sagai T; Yonekawa H; Katoh H; Miyashita N; Tsuchiya K; Nielsen TJ; Shiroishi T. 1998. A new inbred strain JF1 established from Japanese fancy mouse carrying the classic piebald allele [published erratum appears in Mamm Genome 1998 Apr;9(4):344] Mamm Genome 9(1):15-9. [PubMed: 9434939] [MGI Ref ID J:42684]
Kumagai T; Wada A; Tsudzuki M; Nishimura M; Kunieda T. 1998. Nucleotide sequence of endothelin-B receptor gene reveals origin of piebald mutation in laboratory mouse. Exp Anim 47(4):265-9. [PubMed: 10067171] [MGI Ref ID J:56133]
Kuwaki T; Ling GY; Onodera M; Ishii T; Nakamura A; Ju KH; Cao WH; Kumada M; Kurihara H; Kurihara Y; Yazaki Y; Ohuchi T; Yanagisawa M; Fukuda Y. 1999. Endothelin in the central control of cardiovascular and respiratory functions. Clin Exp Pharmacol Physiol 26(12):989-94. [PubMed: 10626068] [MGI Ref ID J:60070]
Lamoreaux ML. 1999. Strain-specific white-spotting patterns in laboratory mice Pigment Cell Res 12(6):383-90. [PubMed: 10614578] [MGI Ref ID J:106083]
Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M. 2002. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mamm Genome 13(1):30-5. [PubMed: 11773966] [MGI Ref ID J:76584]
Mayer TC. 1977. Enhancement of melanocyte development from piebald neural crest by a favorable tissue environment. Dev Biol 56(2):255-62. [PubMed: 849800] [MGI Ref ID J:5782]
Mayer TC. 1967. Pigment cell migration in piebald mice. Dev Biol 15(6):521-35. [PubMed: 5340422] [MGI Ref ID J:5036]
Mayer TC. 1967. Temporal skin factors influencing the development of melanoblasts in piebald mice. J Exp Zool 166(3):397-403. [PubMed: 4868265] [MGI Ref ID J:5060]
Mayer TC. 1965. The development of piebald spotting in mice. Dev Biol 11:319-334. [PubMed: 5320391] [MGI Ref ID J:12725]
McCallion AS; Stames E; Conlon RA; Chakravarti A. 2003. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A 100(4):1826-31. [PubMed: 12574515] [MGI Ref ID J:81970]
Metallinos DL; Oppenheimer AJ; Rinchik EM; Russell LB; Dietrich W; Tilghman SM. 1994. Fine structure mapping and deletion analysis of the murine piebald locus. Genetics 136(1):217-23. [PubMed: 8138159] [MGI Ref ID J:16291]
Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821] [MGI Ref ID J:29467]
Mouse Genome Informatics (MGI). 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN (http://bio.lsd.ornl.gov/mouse/) :. [MGI Ref ID J:100221]
Nadler EP; Boyle P; Murdock AD; Dilorenzo C; Barksdale EM; Ford HR. 2003. Newborn endothelin receptor type B mutant (piebald) mice have a higher resting anal sphincter pressure than newborn C57BL/6 mice. Contemp Top Lab Anim Sci 42(6):36-8. [PubMed: 14615959] [MGI Ref ID J:86743]
Ohuchi T; Kuwaki T; Ling GY; Dewit D; Ju KH; Onodera M; Cao WH; Yanagisawa M; Kumada M. 1999. Elevation of blood pressure by genetic and pharmacological disruption of the ETB receptor in mice. Am J Physiol 276(4 Pt 2):R1071-7. [PubMed: 10198387] [MGI Ref ID J:54703]
PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454] [MGI Ref ID J:25388]
Pavan WJ; Mac S; Cheng M; Tilghman SM. 1995. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res 5(1):29-41. [PubMed: 8717053] [MGI Ref ID J:28905]
Ro S; Hwang SJ; Muto M; Jewett WK; Spencer NJ. 2006. Anatomic modifications in the enteric nervous system of piebald mice and physiological consequences to colonic motor activity. Am J Physiol Gastrointest Liver Physiol 290(4):G710-8. [PubMed: 16339294] [MGI Ref ID J:109114]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Sviderskaya EV; Easty DJ; Bennett DC. 1998. Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. Dev Dyn 213(4):452-63. [PubMed: 9853966] [MGI Ref ID J:51286]
Yamada T; Ohtani S; Sakurai T; Tsuji T; Kunieda T; Yanagisawa M. 2006. Reduced expression of the endothelin receptor type B gene in piebald mice caused by insertion of a retroposon-like element in intron 1. J Biol Chem 281(16):10799-807. [PubMed: 16500897] [MGI Ref ID J:110573]
Oca2p relatedEicher EM. 1970. The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics 64(3-4):495-510. [PubMed: 17248484] [MGI Ref ID J:4428]
Lilly F. 1966. The genetic basis of susceptibility and resistance of mice to the Gross and Friend leukemia viruses. Mouse News Lett 34:14. [MGI Ref ID J:20282]
Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206] [MGI Ref ID J:80751]
Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288] [MGI Ref ID J:81444]
Brilliant MH; Ching A; Nakatsu Y; Eicher EM. 1994. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics 138(1):203-11. [PubMed: 8001787] [MGI Ref ID J:19782]
Cook MN; Dunning JP; Wiley RG; Chesler EJ; Johnson DK; Miller DR; Goldowitz D. 2007. Neurobehavioral mutants identified in an ENU-mutagenesis project. Mamm Genome 18(8):559-72. [PubMed: 17629744] [MGI Ref ID J:125716]
Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264] [MGI Ref ID J:2206]
Haldane JBS; Sprunt AD; Haldane NM. 1915. Reduplication in mice J Genet 5:133-135. [MGI Ref ID J:100]
Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048] [MGI Ref ID J:5346]
Lyon MF. 1963. Attempts to test the inactive-X theory of dosage compensation in mammals Genet Res 4:93-103. [MGI Ref ID J:272]
Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639] [MGI Ref ID J:12970]
Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821] [MGI Ref ID J:29467]
Mouse Genome Informatics (MGI). 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN (http://bio.lsd.ornl.gov/mouse/) :. [MGI Ref ID J:100221]
Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512] [MGI Ref ID J:5001]
PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454] [MGI Ref ID J:25388]
Pierro LJ; Chase HB. 1965. Temporary hair loss associated with the slate mutation of coat colour in the mouse Nature 205:579-580. [MGI Ref ID J:83269]
Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361(6407):72-6. [PubMed: 8421497] [MGI Ref ID J:3600]
Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308] [MGI Ref ID J:12958]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
Additional Supply Details
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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General Terms and Conditions
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