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Strain Name:

STOCK Myo5ad Ds/J

Stock Number:

000390

Availability:

Repository-Cryopreserved


General Terms and Conditions

Genes & Alleles   Ds;   Myo5a;   Myo5ad;


Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationF23+29p

Strain 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.

Gene & Allele Details

Allele Symbol Ds
Allele Name disorganization
Strain of OriginDA/Hu
General Note

The Ds mutation arose spontaneously in the inbred DA/Hu strain at The Jackson Laboratory. Ds disrupts the orderly processes of development. Most homozygotes probably die in utero after implantation and before term (J:13012), but some may possibly be normal and viable (J:15079). Heterozygotes may be normal, may deviate slightly, or may be monstrous individuals with multiple defects (J:13012, J:2436).

Two genetics studies showed that Ds is a completely dominant gain-of-function trait (J:1477). Byusing flanking genetic markers in intercrosses between Ds/+ heterozygotes, Crosby et al. showed that homozygous Ds/Ds mice occur in the expected Mendelian frequency and that the type or severity of birth defect did not differ noticeably between affectedDs/Ds homozygotes and Ds/+ heterozygotes. In addition, they took advantage of non-disjunction in mice heterozygotes for different Robertsonian translocations to determine whether trisomic +/+/Ds mice showed defects characteristic of those found in other mice with the Disorganization defect. Discovery of Ds-specific defects in several trisomic fetuses shows that Ds is probably a gain-of-function mutation.

A statistical analysis of the number of developmental independent birth defects in affected micewith the Disorganization mutation supports a two-hit model. Because of low penetrance, most mice with Disorganization are not obviously affected. However, mice with several independent defects are found (J:2436). Crosby et al (J:39902) showed that thefrequency distribution of mice with 0, 1, 2, 3, .., defects fits a Poisson model, suggesting that inheritance of Disorganization predisposes mice to birth defects, but that other secondary somatic events must occur to determine the location and type of birth defect. The nature of this second-hit, whether genetic or epigenetic, remains to be determined.

Two groups mapped Gata4 near Ds on Chromosome 14 (J:26107, J:25626). White et al. propose that Gata4 is a candidate gene for Ds. Gata4 is on the Ds contig (N. Abbadi and J. Nadeau, unpublished), providing additional evidence that it is a candidate.

A review has been published that compares the variety of birth defects found in mice with the Disorganization mutation and with infants with similar birth defects in humans (J:44298). The possibility of a homolog of Disorganization in humans has been the subject of considerable speculation, especially given the very similar nature of some of the birth defects in the two cases. This review summarizes the cases and evaluates the evidence.

Molecular Note Ds is a gain-of-function mutation. [MGI Ref ID J:1477]
 
Allele Symbol Myo5ad
Allele Name dilute
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).

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/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
000994   STOCK a Myo5ad Mregdsu/J
000286   STOCK a/a Myo5ad fd/+ +/J
View Strains carrying   Myo5ad     (42 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)

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

References

Additional References

Price and Supply Information

Strain Name: STOCK Myo5ad Ds/J
Stock Number: 000390

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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