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Description
Strain Information
Former Names BXD-16/TyJ (Changed: 15-DEC-04 ) Type Recombinant Inbred (Ri); Additional information on Recombinant Inbred Mice. Mating System Sibling x Sibling (Female x Male) Species laboratory mouse RI progenitor C57BL/6J DBA/2J H2 Haplotype d Generation F141+21 (24-MAY-08) Appearance
steel grey
Related Genotype: a/a Tyrp1+/Tyrp1+ Myo5ad/Myo5adDescription
The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also are used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns Query Form. A mutation has been identified in the BXD16 strain in the amylase 1 gene from the parental Amy1a allele to an allele that has an electrophoretic mobility closer to that of Amy1b. This allele is distinct from all others identified and no evidence of genetic contamination was found. Thus, this is believed to have resulted from a spontaneous mutation. (Hjorth, 1982.)Development
The BXD set of RI strains was developed in the laboratory of Benjamin Taylor and was transferred to The Jackson Laboratory from Dr. Taylor's research colony upon his retirement. Of 42 BXD RI strains originally derived from the C57BL/6J (Stock No. 000664) and DBA/2J (Stock No. 000671), a number have become extinct over the years. The other BXD RI strains now being distributed are listed under "Related Recombinant Inbred Strains."
Related Strains
BXD Strains
View BXD Strains (66 strains)
001005 AKXD1/TyJ 001003 AKXD11/TyJ 000765 AKXD13/TyJ 000779 AKXD14/TyJ 000954 AKXD15/TyJ 001093 AKXD18/TyJ 000776 AKXD2/TyJ 001062 AKXD21/TyJ 000947 AKXD22/TyJ 000949 AKXD25/TyJ 000764 AKXD27/TyJ 000959 AKXD3/TyJ 000285 B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J 000652 BDP/J 000036 BXD1/TyJ 000015 BXD18/TyJ 000010 BXD19/TyJ 000077 BXD21/TyJ 000043 BXD22/TyJ 000081 BXD25/TyJ 006255 BXD25/TyJRwwJ 000029 BXD29/TyJ 000037 BXD5/TyJ 000007 BXD6/TyJ 000084 BXD8/TyJ 000105 BXD9/TyJ 000284 CWD/LeJ 000670 DBA/1J 000671 DBA/2J 000963 DBA/2J-Myo5ad+17J/Myo5ad/J 000964 DBA/2J-Myo5ad+18J/Myo5ad/J 000067 DBA/2J-Myo5ad+2J/Myo5ad/J 000673 HRS/J 000674 I/LnJ 001850 MEV-Q/TyJ 001855 MEV-V/TyJ 003345 MEV/2Ty-Emv64/J 000679 P/J 000644 SEA/GnJ 000390 STOCK Myo5ad Ds/J 000994 STOCK a Myo5ad Mregdsu/J 000286 STOCK a/a Myo5ad fd/+ +/J
005012 A.B6 Tyr+-Myo5ad-l31J/J 001013 B10.D2/nSnJ-Myo5ad-n/J 000502 B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J 000963 DBA/2J-Myo5ad+17J/Myo5ad/J 000964 DBA/2J-Myo5ad+18J/Myo5ad/J 000067 DBA/2J-Myo5ad+2J/Myo5ad/J 000253 DLS/LeJ
Phenotype
Phenotype Information
Mouse Phenome Database
Wellcome Trust Centre for Human Genetics: Mouse Recombinant Inbred Line (RIL) Genotype Data for BXD RI Line
This mouse can be used to support research in many areas including:
Myo5ad relatedNeurobiology Research
Behavioral and Learning Defects (genes regulating preferences to alcohol)
Research Tools
Genetics Research (Gene Mapping: Tools for QTL Mapping, Segregation and Linkage Analysis)
Dermatology Research
Color and White Spotting Defects
Mouse/Human Gene Homologs
Griscelli Syndrome
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Myo5ad | ||
|---|---|---|---|
| Allele Name | dilute | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | d; dv; maltese dilution; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Myo5a, myosin Va | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | 9630007J19Rik; AI413174; AI661011; D; Dbv; Dop; GS1; MVa; MYH12; MYO5; MYR12; Myo5; MyoVA; RIKEN cDNA 9630007J19 gene; d; dilute; expressed sequence AI413174; expressed sequence AI661011; flail; flailer; flr; myosin V; nmf244; | ||
| General Note |
Mutations at the Myo5a locus lighten coat color through an abnormal morphology of melanocytes that causes uneven pigmentation of the hair shaft (J:11005). Most of these mutations also cause severe neurological defects; in some mutant forms, these defectslead to early death (J:12978), while in others life span is normal, but convulsions and loss of equilibrium occur after about four months of age (J:16915). Maltese dilution, as this mutation was originally called, is an old mutation of the mouse fancy. The blue-gray color of the hair produced by this mutation in nonagouti (a/a) mice is caused by clumping of the melanin pigment into a few large masses (J:12958). The melanocytes are misshapen, with fewer and thinner dendritic processes than wild-type melanocytes, and melanin granules are largely clumped around the nucleus (J:12970). Incorporation of tyrosine into melanin proceeds at a normal rate (J:12173), and the fine structure of the melanin granules is normal (J:5346). Cultured primary melanocytesfrom dilute homozygotes are normal in morphology but display clustering of melanosomes (J:37976). Griscelli disease (Chediak-Higashi-like syndrome, OMIM 214450) is a human autosomal recessive disorder whose symptoms include pigment dilution, immunodeficiency, and acute lethal lymphocyte and macrophage activation. Melanocyte malformation is characteristic of the pigment abnormality. The immunological abnormality includes absence of cutaneous hypersensitivity and impaired function of natural-killer cells. Griscelli disease resembles the dilute-lethal mouse mutant, except for the neurological disorder in the mouse. The locus for Griscelli disease colocalizes with the locus for myosin Va, which is mutated in at least some Griscelli patients. Griscelli disease is thus the homolog of mouse Maltese dilution (J:41253). The original Myo5ad mutation which identified the locuswas caused by insertion of an ecotropic murine leukemia virus (see Emv3) (J:6844, J:6587). All other mutations examined lack the virus. Reversions of Myo5ad to wild-type, which have been reported frequently, are caused by excision of the virusleaving exactly one long terminal repeat in place (J:7092). The virus is integrated into a noncoding region of the DNA (J:7751). | ||
| Molecular Note | This mutation is the result of the integration of the ecotropic murine leukemia virus Emv-3 into the normal Myo5ad gene. [MGI Ref ID J:6587] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
References
References
Selected Reference(s)
Alexander RC; Wright R; Freed W. 1996. Quantitative trait loci contributing to phencyclidine-induced and amphetamine-induced locomotor behavior in inbred mice. Neuropsychopharmacology 15(5):484-90. [PubMed: 8914121] [MGI Ref ID J:36714]
Belknap JK; Crabbe JC; Plomin R; McClearn GE; Sampson KE; O'Toole LA; Gora-Maslak G. 1992. Single-locus control of saccharin intake in BXD/Ty recombinant inbred (RI) mice: some methodological implications for RI strain analysis. Behav Genet 22(1):81-100. [PubMed: 1590732] [MGI Ref ID J:1952]
Belknap JK; Metten P; Helms ML; O'Toole LA; Angeli-Gade S; Crabbe JC; Phillips TJ. 1993. Quantitative trait loci (QTL) applications to substances of abuse: physical dependence studies with nitrous oxide and ethanol in BXD mice. Behav Genet 23(2):213-22. [PubMed: 8512534] [MGI Ref ID J:11831]
Belknap JK; Mogil JS; Helms ML; Richards SP; O'Toole LA; Bergeson SE; Buck KJ. 1995. Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci 57(10):PL117-24. [PubMed: 7643715] [MGI Ref ID J:28263]
Belknap JK; Phillips TJ; O'Toole LA. 1992. Quantitative trait loci associated with brain weight in the BXD/Ty recombinant inbred mouse strains. Brain Res Bull 29(3-4):337-44. [PubMed: 1393606] [MGI Ref ID J:2827]
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23. [PubMed: 10656187] [MGI Ref ID J:66463]
Cabib S; Oliverio A; Ventura R; Lucchese F; Puglisi-Allegra S. 1997. Brain dopamine receptor plasticity: testing a diathesis-stress hypothesis in an animal model. Psychopharmacology (Berl) 132(2):153-60. [PubMed: 9266612] [MGI Ref ID J:68169]
Crabbe JC. 1998. Provisional mapping of quantitative trait loci for chronic ethanol withdrawal severity in BXD recombinant inbred mice. J Pharmacol Exp Ther 286(1):263-71. [PubMed: 9655868] [MGI Ref ID J:49185]
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82. [PubMed: 7748342] [MGI Ref ID J:109922]
Crabbe JC; Belknap JK; Mitchell SR; Crawshaw LI. 1994. Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice. J Pharmacol Exp Ther 269(1):184-92. [PubMed: 8169823] [MGI Ref ID J:18566]
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41. [PubMed: 7480533] [MGI Ref ID J:28135]
Gora-Maslak G; McClearn GE; Crabbe JC; Phillips TJ; Belknap JK; Plomin R. 1991. Use of recombinant inbred strains to identify quantitative trait loci in psychopharmacology. Psychopharmacology (Berl) 104(4):413-24. [PubMed: 1780413] [MGI Ref ID J:39738]
Grisel JE; Belknap JK; O'Toole LA; Helms ML; Wenger CD; Crabbe JC. 1997. Quantitative trait loci affecting methamphetamine responses in BXD recombinant inbred mouse strains. J Neurosci 17(2):745-54. [PubMed: 8987796] [MGI Ref ID J:37546]
Hofstetter JR; Mayeda AR; Possidente B; Nurnberger JI. 1995. Quantitative trait loci (QTL) for circadian rhythms of locomotor activity in mice. Behav Genet 25(6):545-56. [PubMed: 8540893] [MGI Ref ID J:29803]
Hofstetter JR; Possidente B; Mayeda AR. 1999. Provisional QTL for circadian period of wheel running in laboratory mice: quantitative genetics of period in RI mice. Chronobiol Int 16(3):269-79. [PubMed: 10373097] [MGI Ref ID J:55774]
Klein RF; Mitchell SR; Phillips TJ; Belknap JK; Orwoll ES. 1998. Quantitative trait loci affecting peak bone mineral density in mice. J Bone Miner Res 13(11):1648-56. [PubMed: 9797472] [MGI Ref ID J:50828]
Miner LL; Marley RJ. 1995. Chromosomal mapping of loci influencing sensitivity to cocaine-induced seizures in BXD recombinant inbred strains of mice. Psychopharmacology (Berl) 117(1):62-6. [PubMed: 7724703] [MGI Ref ID J:23071]
Mogil JS; Richards SP; O'Toole LA; Helms ML; Mitchell SR; Kest B; Belknap JK. 1997. Identification of a sex-specific quantitative trait locus mediating nonopioid stress-induced analgesia in female mice. J Neurosci 17(20):7995-8002. [PubMed: 9315917] [MGI Ref ID J:43467]
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41. [PubMed: 7978106] [MGI Ref ID J:20482]
Phillips TJ; Huson M; Gwiazdon C; Burkhart-Kasch S; Shen EH. 1995. Effects of acute and repeated ethanol exposures on the locomotor activity of BXD recombinant inbred mice. Alcohol Clin Exp Res 19(2):269-78. [PubMed: 7625557] [MGI Ref ID J:25695]
Phillips TJ; Huson MG; McKinnon CS. 1998. Localization of genes mediating acute and sensitized locomotor responses to cocaine in BXD/Ty recombinant inbred mice. J Neurosci 18(8):3023-34. [PubMed: 9526019] [MGI Ref ID J:46922]
Plomin R; McClearn GE; Gora-Maslak G; Neiderhiser JM. 1991. Use of recombinant inbred strains to detect quantitative trait loci associated with behavior. Behav Genet 21(2):99-116. [PubMed: 2049054] [MGI Ref ID J:11248]
Quock RM; Mueller JL; Vaughn LK; Belknap JK. 1996. Nitrous oxide antinociception in BXD recombinant inbred mouse strains and identification of quantitative trait loci. Brain Res 725(1):23-9. [PubMed: 8828582] [MGI Ref ID J:34065]
Roberts AJ; Phillips TJ; Belknap JK; Finn DA; Keith LD. 1995. Genetic analysis of the corticosterone response to ethanol in BXD recombinant inbred mice. Behav Neurosci 109(6):1199-208. [PubMed: 8748968] [MGI Ref ID J:31087]
Rodriguez LA; Plomin R; Blizard DA; Jones BC; McClearn GE. 1995. Alcohol acceptance, preference, and sensitivity in mice. II. Quantitative trait loci mapping analysis using BXD recombinant inbred strains. Alcohol Clin Exp Res 19(2):367-73. [PubMed: 7625571] [MGI Ref ID J:25698]
Tarricone BJ; Hwang WG; Hingtgen JN; Mitchell SR; Belknap JK; Nurnberger JI. 1995. Identification of a locus on mouse chromosome 17 associated with high-affinity choline uptake using BXD recombinant inbred mice and quantitative trait loci analysis. Genomics 27(1):161-4. [PubMed: 7665164] [MGI Ref ID J:25620]
Zidek V; Musilova A; Pintir J; Simakova M; Pravenec M. 1998. Genetic dissection of testicular weight in the mouse with the BXD recombinant inbred strains. Mamm Genome 9(7):503-5. [PubMed: 9657844] [MGI Ref ID J:48698]
Additional References
Hjorth JP. 1982. Altered salivary amylase gene in the mouse strain BXD-16. Heredity (Edinburgh) 48(Pt 1):127-35. [PubMed: 6176569] [MGI Ref ID J:6762]
Jenkins NA; Copeland NG; Taylor BA; Lee BK. 1981. Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293(5831):370-4. [PubMed: 6268990] [MGI Ref ID J:6587]
Myo5ad relatedColeman DL. 1962. Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys 96:562-8. [PubMed: 13880466] [MGI Ref ID J:12173]
Copeland NG; Hutchison KW; Jenkins NA. 1983. Excision of the DBA ecotropic provirus in dilute coat-color revertants of mice occurs by homologous recombination involving the viral LTRs. Cell 33(2):379-87. [PubMed: 6305507] [MGI Ref ID J:7092]
Engle LJ; Kennett RH. 1994. Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. Genomics 19(3):407-16. [PubMed: 8188282] [MGI Ref ID J:16915]
Grobman AB; Charles DR. 1947. Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J Hered 38:381-384. [MGI Ref ID J:13058]
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]
Hutchison KW; Copeland NG; Jenkins NA. 1984. Dilute-coat-color locus of mice: nucleotide sequence analysis of the d+2J and d+Ha revertant alleles. Mol Cell Biol 4(12):2899-904. [PubMed: 6098826] [MGI Ref ID J:7751]
Jenkins NA; Copeland NG; Taylor BA; Lee BK. 1981. Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293(5831):370-4. [PubMed: 6268990] [MGI Ref ID J:6587]
Jenkins NA; Copeland NG; Taylor BA; Lee BK. 1982. Organization, distribution, and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J Virol 43(1):26-36. [PubMed: 6287001] [MGI Ref ID J:6844]
Libby RT; Lillo C; Kitamoto J; Williams DS; Steel KP. 2004. Myosin Va is required for normal photoreceptor synaptic activity. J Cell Sci 117(Pt 19):4509-15. [PubMed: 15316067] [MGI Ref ID J:92181]
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]
Mercer JA; Seperack PK; Strobel MC; Copeland NG; Jenkins NA. 1991. Novel myosin heavy chain encoded by murine dilute coat colour locus [published erratum appears in Nature 1991 Aug 8;352(6335):547] Nature 349(6311):709-13. [PubMed: 1996138] [MGI Ref ID J:11005]
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]
Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1994. The murine dilute suppressor gene encodes a cell autonomous suppressor. Genetics 138(2):491-7. [PubMed: 7828830] [MGI Ref ID J:20796]
Moore KJ; Swing DA; Rinchik EM; Mucenski ML; Buchberg AM; Copeland NG; Jenkins NA. 1988. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics 119(4):933-41. [PubMed: 3410303] [MGI Ref ID J:9309]
Murray WS. 1934. The breeding behavior of the dilute brown stock of mice (Little dba) Am J Cancer 20:573-593. [MGI Ref ID J:2464]
O'Sullivan TN; Wu XS; Rachel RA; Huang JD; Swing DA; Matesic LE; Hammer JA rd; Copeland NG; Jenkins NA. 2004. dsu functions in a MYO5A-independent pathway to suppress the coat color of dilute mice. Proc Natl Acad Sci U S A 101(48):16831-6. [PubMed: 15550542] [MGI Ref ID J:94728]
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]
Pastural E; Barrat FJ; Dufourcq-Lagelouse R; Certain S; Sanal O ; Jabado N ; Seger R ; Griscelli C ; Fischer A ; de Saint Basile G. 1997. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16(3):289-92. [PubMed: 9207796] [MGI Ref ID J:41253]
Provance DW Jr; Wei M; Ipe V; Mercer JA. 1996. Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution. Proc Natl Acad Sci U S A 93(25):14554-8. [PubMed: 8962090] [MGI Ref ID J:37976]
RIKEN BioResource Center/RIKEN Genomic Sciences Center. 2008. A Large Scale Mutagenesis Program in RIKEN GSC PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/) :. [MGI Ref ID J:133634]
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]
Sweet HO. 1983. Dilute suppressor, a new suppressor gene in the house mouse. J Hered 74(4):305-6. [PubMed: 6886377] [MGI Ref ID J:7171]
Yoshimura A; Fujii R; Watanabe Y; Okabe S; Fukui K; Takumi T. 2006. Myosin-Va facilitates the accumulation of mRNA/protein complex in dendritic spines. Curr Biol 16(23):2345-51. [PubMed: 17141617] [MGI Ref ID J:117928]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB27
Colony Maintenance
Mating System Sibling x Sibling (Female x Male)
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 Individual Mouse Price $78.50 Female or Male
Additional Supply Details
| Supply Notes |
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| Pricing for International shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Individual Mouse Price $102.10 Female or Male
Additional Supply Details
| Supply Notes |
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement. |
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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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