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Type Mutant Stock; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation F48N1p Appearance
nonagouti (black)
Related Genotype: a/a Myo5ad fd/++
dilute
Related Genotype: a/a Myo5adfd /Myo5adfdDevelopment
Fur deficient (fd) arose spontaneously in DBA/2J in 1966 at The Jackson Laboratory. It was outcrossed to C57BL/6J once and the F1 was backcrossed to a DBA2/J-fd homozygote. It was then sibling mated using a Myo5ad fd/Myo5ad fd male and a Myo5ad fd/+ + female. Close linkage was found between Myo5ad and fd and the stock was maintained by sibling matings keeping the two loci in coupling phase. It was cryopreserved in 1991 by mating Myo5ad fd/Myo5ad fd or Myo5ad fd/+ + males at F47 to C57BL/6J females.
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Myo5ad allele
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 000013 BXD16/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 View Strains carrying Myo5ad (42 strains)
Strains carrying a allele
View Strains carrying a (103 strains)
Strains carrying other alleles of Myo5a
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 View Strains carrying other alleles of Myo5a (7 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (67 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
fd/fd
DBA/2J-fdView Research Applications
Research Applications
This mouse can be used to support research in many areas including:Myo5ad related
fd relatedDermatology Research
Color and White Spotting Defects
Mouse/Human Gene Homologs
Griscelli Syndrome
Dermatology Research
Skin and Hair Texture Defects
| 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] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Allele Symbol | fd | ||
| Allele Name | fur deficient | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | DBA/2J | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
Myo5ad relatedfd 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]
Lane PW; Sweet HO. 1973. Fur deficient Mouse News Lett 48:34-35. [MGI Ref ID J:13622]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| 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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| Control | ||
|---|---|---|
| Heterozygote 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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