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Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N1
Generation DefinitionsDescription
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalities of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Itpr1opt allele
000019 B6C3Fe-a/a-Itpr1opt/J View Strains carrying Itpr1opt (1 strain)
Strains carrying MitfMi-wh allele
000593 B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J 000158 B6.Cg-MitfMi-wh/MitfMi/J 000184 B6.Cg-MitfMi-wh/Mitfmi-rw/J 000157 B6.Cg-MitfMi-wh/Mitfmi-sp/J 000057 B6.Cg-MitfMi-wh/J 000350 B6By.Cg-KitW-v MitfMi-wh T/J 001253 STOCK MitfMi-wh +/+ Wnt7apx/J View Strains carrying MitfMi-wh (7 strains)
Strains carrying a allele
View Strains carrying a (102 strains)
Strains carrying other alleles of Itpr1
014155 FVB-Tg(Myh6/tetO-Itpr1)22.3Jmol/J View Strains carrying other alleles of Itpr1 (1 strain)
Strains carrying other alleles of Mitf
003046 B6(FVB)-MitfMi-Mee/J 000158 B6.Cg-MitfMi-wh/MitfMi/J 000184 B6.Cg-MitfMi-wh/Mitfmi-rw/J 000157 B6.Cg-MitfMi-wh/Mitfmi-sp/J 001573 B6C3Fe a/a-MitfMi/J 000956 B6CB-Mitfmi-rw/J 002611 C57BL/6J-Mitfmi-bws/J 002134 C57BL/6J-Mitfmi-vit/J View Strains carrying other alleles of Mitf (8 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (82 strains)
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).
Albinism, Ocular, with Sensorineural Deafness
Tietz Syndrome
Waardenburg Syndrome, Type 2A; WS2A
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
Spinocerebellar Ataxia 15; SCA15 (ITPR1)
Spinocerebellar Ataxia 29; SCA29 (ITPR1)
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.
Itpr1opt/Itpr1opt
involves: C57BLKS
- mortality/aging
- complete lethality at weaning (MGI Ref ID J:37547)
- behavior/neurological phenotype
- abnormal locomotor behavior (MGI Ref ID J:37547)
- abnormal locomotor ability (MGI Ref ID J:28829)
- abnormal locomotor coordination
- abnormal walking (MGI Ref ID J:50383)
- impaired balance
- impaired coordination (MGI Ref ID J:50383)
- impaired righting response
- at 15-20 days of age, mice struggle to right themselves (MGI Ref ID J:13536)
- opisthotonus
- severe after 15-20 days of age (MGI Ref ID J:13536)
- seizures (MGI Ref ID J:50383)
- weakness
- weak and sickly appearance by 7 days of age (MGI Ref ID J:50383)
- cellular phenotype
- abnormal cell physiology
- quisqualate (QA) treatment of Purkinje neurons elicited a similar calcium release as controls; repeated QA application showed a less attenuated response in mutant cells than in controls (MGI Ref ID J:50383)
- growth/size phenotype
- decreased body size (MGI Ref ID J:37547)
- reported as smaller than littermates (MGI Ref ID J:28829)
- muscle phenotype
- opisthotonus
- severe after 15-20 days of age (MGI Ref ID J:13536)
- nervous system phenotype
- *normal* nervous system phenotype
MitfMi-wh/Mitf+
involves: C57BL * DBA
- pigmentation phenotype
- abnormal foot pigmentation
- reduced foot pigmentation (MGI Ref ID J:13058)
- abnormal iris pigmentation
- moderate dilution of the iris pigmentation (MGI Ref ID J:125080)
- decreased eye pigmentation
- eyes are a very dark ruby color (MGI Ref ID J:13058)
- decreased tail pigmentation
- reduced tail pigmentation (MGI Ref ID J:13058)
- diluted coat color (MGI Ref ID J:125080)
- white spotting
- small spots may occur on the back, but spotting is not found on the head (MGI Ref ID J:125080)
- limbs/digits/tail phenotype
- decreased tail pigmentation
- reduced tail pigmentation (MGI Ref ID J:13058)
- vision/eye phenotype
- abnormal iris pigmentation
- moderate dilution of the iris pigmentation (MGI Ref ID J:125080)
- decreased eye pigmentation
- eyes are a very dark ruby color (MGI Ref ID J:13058)
- integument phenotype
- abnormal foot pigmentation
- reduced foot pigmentation (MGI Ref ID J:13058)
- decreased tail pigmentation
- reduced tail pigmentation (MGI Ref ID J:13058)
- diluted coat color (MGI Ref ID J:125080)
- white spotting
- small spots may occur on the back, but spotting is not found on the head (MGI Ref ID J:125080)
MitfMi-wh/MitfMi-wh
involves: C57BL * DBA
- pigmentation phenotype
- absent coat pigmentation
- decreased eye pigmentation
- little or no pigment in the iris (MGI Ref ID J:125080)
- ocular albinism
- eyes are pink and pigmentless (MGI Ref ID J:13058)
- vision/eye phenotype
- decreased eye pigmentation
- little or no pigment in the iris (MGI Ref ID J:125080)
- microphthalmia
- ocular albinism
- eyes are pink and pigmentless (MGI Ref ID J:13058)
- growth/size phenotype
- decreased body size
- reproductive system phenotype
- decreased litter size
- litter size is reduced in homozygous female to homozygous male crosses (MGI Ref ID J:13058)
- reduced fertility (MGI Ref ID J:125080)
- hearing/vestibular/ear phenotype
- abnormal cochlea morphology
- no section of the cochlear duct was ever found to be normal (MGI Ref ID J:125080)
- abnormal vestibular saccule morphology
- the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule (MGI Ref ID J:125080)
- nervous system phenotype
- abnormal cochlear hair cell morphology (MGI Ref ID J:125080)
- integument phenotype
- absent coat pigmentation
MitfMi-wh/MitfMi-wh
B6.Cg-MitfMi-wh
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology
- pigment granules are absent at E11 (MGI Ref ID J:5046)
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region (MGI Ref ID J:5046)
- after E12 in some area the cells are columnar rather than cuboidal (MGI Ref ID J:5046)
- at all stages the number of mitoses is increased compared to control pigment layers (MGI Ref ID J:5046)
- vision/eye phenotype
- abnormal eye development
- at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close (MGI Ref ID J:5046)
- in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure (MGI Ref ID J:5046)
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal posterior eye segment morphology
- the lens fills the space normally occupied by the vitreous body (MGI Ref ID J:5046)
- abnormal choroid morphology
- abnormal retinal neuronal layer morphology
- at birth, the layers are less clearly defined (MGI Ref ID J:5046)
- abnormal retinal pigment epithelium morphology
- pigment granules are absent at E11 (MGI Ref ID J:5046)
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region (MGI Ref ID J:5046)
- after E12 in some area the cells are columnar rather than cuboidal (MGI Ref ID J:5046)
- at all stages the number of mitoses is increased compared to control pigment layers (MGI Ref ID J:5046)
- microphthalmia
- slightly smaller at birth (MGI Ref ID J:5046)
- skeleton phenotype
- *normal* skeleton phenotype
- homeostasis/metabolism phenotype
- decreased bleeding time
- bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls (MGI Ref ID J:7327)
MitfMi-wh/MitfMi-wh
involves: C57BL * C57BL/6J * DBA
- pigmentation phenotype
- absent coat pigmentation
- white coat (MGI Ref ID J:89821)
- decreased eye pigmentation
- eyes are slightly pigmented (MGI Ref ID J:89821)
- skeleton phenotype
- *normal* skeleton phenotype
- normal bone development and mice do not develop osteopetrosis (MGI Ref ID J:89821)
- vision/eye phenotype
- decreased eye pigmentation
- eyes are slightly pigmented (MGI Ref ID J:89821)
- microphthalmia (MGI Ref ID J:89821)
- integument phenotype
- absent coat pigmentation
- white coat (MGI Ref ID J:89821)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Itpr1opt related
MitfMi-wh relatedNeurobiology Research
Epilepsy
Metabolic Defects
Receptor Defects
Dermatology Research
Color and White Spotting Defects
Endocrine Deficiency Research
Bone/Bone Marrow Defects
Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Neurobiology Research
Hearing Defects
Sensorineural Research
Eye Defects
Hearing Defects
| Allele Symbol | Itpr1opt | ||
|---|---|---|---|
| Allele Name | opisthotonus | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Itpr-1opt; | ||
| Strain of Origin | C57BLKS-Lepr | ||
| Gene Symbol and Name | Itpr1, inositol 1,4,5-trisphosphate receptor 1 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | D6Pas2; DNA segment, Chr 6, Pasteur Institute 2; I145TR; INSP3R1; IP3R; IP3R1; InsP3R; InsP3R type I; Ip3r; Itpr-1; P400; Pcp-1; Pcp1; Purkinje cell protein 1; SCA15; SCA16; SCA29; inositol 1,4,5-triphosphate binding protein; opisthotonus; opt; | ||
| Molecular Note | The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. [MGI Ref ID J:37547] | ||
| Allele Symbol | MitfMi-wh | ||
| Allele Name | white | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Miwh; mitfwh; | ||
| Strain of Origin | (C57BL x DBA)F1 | ||
| Gene Symbol and Name | Mitf, microphthalmia-associated transcription factor | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; mi; microphthalmia; vit; vitiligo; wh; | ||
| General Note | Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061). | ||
| Molecular Note | T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein. [MGI Ref ID J:19656] [MGI Ref ID J:21366] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
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Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
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Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Kuntzel A; Roelke ME; Pino J; Pontius J; Cooper GM; Manuel H; Swanson WF; Marker L; Harper CK; van Dyk A; Yue B; Mullikin JC; Warren WC; Eizirik E; Kos L; O'Brien SJ; Barsh GS; Menotti-Raymond M. 2012. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337(6101):1536-41. [PubMed: 22997338] [MGI Ref ID J:188277]
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Loosli R. 1963. Tanoid--a new agouti mutant in the mouse. J Hered 54:26-29. [MGI Ref ID J:13082]
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Martin NM; Houston PA; Patterson M; Sajedi A; Carmignac DF; Ghatei MA; Bloom SR; Small CJ. 2006. Abnormalities of the somatotrophic axis in the obese agouti mouse. Int J Obes (Lond) 30(3):430-8. [PubMed: 16172617] [MGI Ref ID J:151302]
Martinez HG; Quinones MP; Jimenez F; Estrada CA; Clark K; Muscogiuri G; Sorice G; Musi N; Reddick RL; Ahuja SS. 2011. Critical role of chemokine (C-C motif) receptor 2 (CCR2) in the KKAy + Apoe -/- mouse model of the metabolic syndrome. Diabetologia 54(10):2660-8. [PubMed: 21779871] [MGI Ref ID J:177084]
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Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404] [MGI Ref ID J:4186]
Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. [PubMed: 19338759] [MGI Ref ID J:147343]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
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]
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Novak EK; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. [PubMed: 6776948] [MGI Ref ID J:6422]
Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. [PubMed: 17878220] [MGI Ref ID J:145108]
Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :. [PubMed: 19525957] [MGI Ref ID J:149352]
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Rosenfeld CS; Sieli PT; Warzak DA; Ellersieck MR; Pennington KA; Roberts RM. 2013. Maternal exposure to bisphenol A and genistein has minimal effect on A(vy)/a offspring coat color but favors birth of agouti over nonagouti mice. Proc Natl Acad Sci U S A 110(2):537-42. [PubMed: 23267115] [MGI Ref ID J:193279]
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Sakurai T; Ochiai H; Takeuchi T. 1975. Ultrastructural change of melanosomes associated with agouti pattern formation in mouse hair. Dev Biol 47(2):466-71. [PubMed: 1204945] [MGI Ref ID J:5606]
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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* $3175.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
Cryorecovery of Strains Needing Progeny Testing
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.
Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). 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* $4127.50 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 of Strains Needing Progeny Testing
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation.
Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation.
Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845 (from any location). 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 | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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