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 Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation F19+5+N1p

Description
Mice homozygous for the dilute-neurological spontaneous mutation (Myo5a^d-n) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal mutant mice (Myo5a^d-l, Stock No. 000253).

Related Strains

Strains carrying other alleles of Myo5a

005012	A.B6 Tyr+-Myo5ad-l31J/J
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
000502	B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
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
000253	DLS/LeJ
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

View Strains carrying other alleles of Myo5a     (47 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Myo5a^d-n/Myo5a^d-n

        B10.D2-H2^d/nSnJ

• pigmentation phenotype
• abnormal coat/hair pigmentation (MGI Ref ID J:47547)
• diluted coat color (MGI Ref ID J:47547)
  • mice appear gray on a nonagouti background
• skin/coat/nails phenotype
• abnormal coat/hair pigmentation (MGI Ref ID J:47547)
• diluted coat color (MGI Ref ID J:47547)
  • mice appear gray on a nonagouti background
• behavior/neurological phenotype
• abnormal motor capabilities/coordination/movement (MGI Ref ID J:47547)
  • the majority of homozygotes of both sexes reach adulthood and are fertile

View Research Applications

Research Applications

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

Myo5a^d-n related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Growth Defects

Mouse/Human Gene Homologs
Griscelli Syndrome

Genes & Alleles

Gene & Allele Information

Allele Symbol		Myo5ad-n
Allele Name		dilute neurological
Allele Type		Spontaneous
Strain of Origin		B10.D2-H2d/nSnJ
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		Myo5ad-n, dilute-neurological, recessive. This mutation arose in the B10.D2/nSnJ congenic strain (J:16313). Homozygotes display a neuromuscular disorder, but the condition is less severe than in Myo5ad-l homozygotes (M.T. Davisson, 1996, personal communication).
Molecular Note		Genomic sequence analysis showed this mutation results from a C5558T transition that introduces a stop codon at residue 1840 of the protein. mRNA levels are not significantly affected; however protein levels are dramatically reduced. [MGI Ref ID J:47547]

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

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]

Takagishi Y; Oda S; Hayasaka S; Dekker-Ohno K; Shikata T; Inouye M; Yamamura H. 1996. The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice. Neurosci Lett 215(3):169-72. [PubMed: 8899740]  [MGI Ref ID J:36532]

Woolf LI; Jakubovic A; Woolf F; Bory P. 1970. Metabolism of phenylalanine in mice homozygous for the gene 'dilute lethal'. Biochem J 119(5):895-903. [PubMed: 5531182]  [MGI Ref ID J:5185]

Myo5a^d-n related

Huang JD; Mermall V; Strobel MC; Russell LB; Mooseker MS; Copeland NG; Jenkins NA. 1998. Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations. (Errata Genetics 1998 Nov;150:1331) Genetics 148(4):1963-72. [PubMed: 9560409]  [MGI Ref ID J:47547]

Sweet HO. 1993. Remutations at The Jackson Laboratory Mouse Genome 91(4):862-65.  [MGI Ref ID J:16313]

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

Supply Details

Standard Supply

Cryopreserved. 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's Genotype Promise

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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fax:	207-288-6655

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