Strain Name:

STOCK Myo5ad Ds/J

Stock Number:

000390

Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
GenerationF23+29p

Development
The mutation disorganization (Ds) arose spontaneously in the incipient inbred strain DA/Hu at F22 around 1957 at The Jackson Laboratory. The first mutant identified was a female that was then bred to her wild type brother and their mutant daughter was backcrossed to her wild type father. This pair bore mutant offspring and two females were outcrossed to DBA/1J. The mutant was then continually backcrossed to DBA/1J to generation N11 and then sister x brother bred, always mating a mutant phenotype to a wild type to F25. The penatrance of this mutation varied on different backgrounds. In 1974 the strain was outcrossed to 129/TerSv once (N1) and then sister x brother bred to F23. The strain was then referred to as a STOCK and inbreeding continued. It was cryopreserved in 1992 by mating a +/? females with Ds/+ to males at generation F23+F28.

Related Strains

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-Tlr4lps-2J/J
010981   BXD29/Ty
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
000994   STOCK a Myo5ad Mregdsu/J
000286   STOCK a/a Myo5ad fd/+ +/J
View Strains carrying   Myo5ad     (43 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)

Phenotype

Phenotype Information

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.

Ds/Ds

        involves: 129T1/Sv * DA/Hu * DBA/1J
  • lethality-prenatal/perinatal
  • prenatal lethality (MGI Ref ID J:13012)
    • death can occur at any point between post-implantation and before term
  • life span-post-weaning/aging
  • decreased survivor rate (MGI Ref ID J:15079)
    • some may be normal and viable
  • embryogenesis phenotype
  • abnormal embryogenesis/ development (MGI Ref ID J:13012)

Ds/Ds

        involves: 129T1/Sv * C3H/HeJ * DA/Hu * DBA/1J
  • lethality-prenatal/perinatal
  • embryonic lethality (MGI Ref ID J:13012)
    • 21% of implanted embryos from heterozygous matings are dead by E12
    • in utero examination shows dead embryos in well-established fetal membranes and more implantation sites compared to the number of term fetuses suggesting lethal effects occur after implantation

Ds/Ds+

        involves: 129T1/Sv * DA/Hu * DBA/1J
  • embryogenesis phenotype
  • abnormal embryogenesis/ development (MGI Ref ID J:13012)
    • abnormal embryonic tissue morphology (MGI Ref ID J:13012)
      • a mix of abnormalities is seen that varies in number and type from mouse to mouse
    • mirror image duplication (MGI Ref ID J:13012)
      • duplicated limbs are common
  • tumorigenesis
  • skin hamartoma (MGI Ref ID J:13012)
  • lethality-prenatal/perinatal
  • perinatal lethality (MGI Ref ID J:13012)
    • the most severe abnormalities are lethal
  • life span-post-weaning/aging
  • decreased survivor rate (MGI Ref ID J:13012)
  • craniofacial phenotype
  • cranioschisis (MGI Ref ID J:13012)
  • skeleton phenotype
  • cranioschisis (MGI Ref ID J:13012)
  • scoliosis (MGI Ref ID J:13012)
    • in sacral and caudal locations
  • limbs/digits/tail phenotype
  • polydactyly (MGI Ref ID J:13012)
  • skin/coat/nails phenotype
  • skin hamartoma (MGI Ref ID J:13012)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Ds related

Developmental Biology Research
Embryonic Lethality (Homozygous)

Myo5ad related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
Griscelli Syndrome

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Ds
Allele Name disorganization
Allele Type Spontaneous
Strain of OriginDA/Hu
Gene Symbol and Name Ds, disorganization
Chromosome 14
 
Allele Symbol Myo5ad
Allele Name dilute
Allele Type Spontaneous
Common Name(s) d; dv; maltese dilution;
Strain of Originold 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

Genotyping resources and troubleshooting

References

References

Additional References

Ds related

Crosby JL; Varnum DS; Nadeau JH. 1993. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet 52(5):866-74. [PubMed: 8488837]  [MGI Ref ID J:39902]

Crosby JL; Varnum DS; Washburn LL; Nadeau JH. 1992. Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects. Mech Dev 37(3):121-6. [PubMed: 1498039]  [MGI Ref ID J:1477]

Guenet JL. 1976. The fate of Ds homozygotes Mouse News Lett 54:51.  [MGI Ref ID J:15079]

HUMMEL KP. 1959. Developmental anomalies in mice resulting from action of the gene, disorganization, a semi-dominant lethal. Pediatrics 23(1 Part 2):212-21. [PubMed: 13613883]  [MGI Ref ID J:2436]

HUMMEL KP. 1958. The inheritance and expression of disorganization, an unusual mutation in the mouse. J Exp Zool 137(3):389-423. [PubMed: 13587873]  [MGI Ref ID J:13012]

Hivnor CM; Yan AC; Aronson A; Crawford G; Seykora J; Honig PJ; Ming JE. 2007. What syndrome is this? Disorganization syndrome. Pediatr Dermatol 24(1):90-2. [PubMed: 17300661]  [MGI Ref ID J:147481]

Hummel KP. 1955. Disorganization (Ds) Mouse News Lett 12:29.  [MGI Ref ID J:145146]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

Robin NH; Abbadi N; McCandless SE; Nadeau JH. 1997. Disorganization in mice and humans and its relation to sporadic birth defects. Am J Med Genet 73(4):425-36. [PubMed: 9415470]  [MGI Ref ID J:44298]

Robin NH; Adewale OO; McDonald-McGinn D; Nadeau JH; Zackai EH; Bucan M. 1993. Human malformations similar to those in the mouse mutation disorganization (Ds). Hum Genet 92(5):461-4. [PubMed: 8244336]  [MGI Ref ID J:144170]

Robin NH; Nadeau JH. 2001. Disorganization in mice and humans. Am J Med Genet 101(4):334-8. [PubMed: 11471156]  [MGI Ref ID J:70218]

Teebi AS; Elliott AM. 1996. Another case of the human homologue of the mouse mutant disorganization. Am J Med Genet 61(1):94. [PubMed: 8741929]  [MGI Ref ID J:147482]

White RA; Dowler LL; Pasztor LM; Gatson LL; Adkison LR; Angeloni SV; Wilson DB. 1995. Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). Genomics 27(1):20-6. [PubMed: 7665171]  [MGI Ref ID J:25626]

Myo5ad related

Coleman 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]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

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; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

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

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 View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
Animals Provided

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.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
Animals Provided

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.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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).

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


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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.
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