Strain Name:

B10.D2/nSnJ-Myo5ad-n/J

Stock Number:

001013

Order this mouse

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 Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
GenerationF19+5+N1p
Generation Definitions

Description
Mice homozygous for the dilute-neurological spontaneous mutation (Myo5ad-n) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal mutant mice (Myo5ad-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
012889   B6N;TKDU-Myo5ad Cacna2d2du/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
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 Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Griscelli Syndrome, Type 1; GS1
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Elejalde Disease
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Myo5ad-n/Myo5ad-n

        B10.D2-H2d/nSnJ
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:47547)
    • diluted coat color   (MGI Ref ID J:171603)
      • mice appear gray on a nonagouti background   (MGI Ref ID J:47547)
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • frequency of spontaneous eyeblink and startle response to the tone conditioned stimulus are no different from wild-type mice   (MGI Ref ID J:171603)
    • abnormal eye blink conditioning behavior
      • young mutants (P28-P29) exhibit impaired eyeblink conditioning while adults show similar eyeblink conditioning as wild-type mice   (MGI Ref ID J:171603)
    • abnormal motor capabilities/coordination/movement
      • the majority of homozygotes of both sexes reach adulthood and are fertile   (MGI Ref ID J:47547)
      • abnormal locomotor coordination
        • adult mutants exhibit abnormal movements, such as occasionally lifting the tail and a tendency to waddle   (MGI Ref ID J:171603)
        • abnormal gait
          • mutants develop gait abnormalities at P10-P11   (MGI Ref ID J:171603)
          • adult mutants exhibit abnormal gait, with a wider gait and a more irregular stride pattern than wild-type mice   (MGI Ref ID J:171603)
        • ataxia   (MGI Ref ID J:171603)
      • impaired coordination
        • on the rotarod test, both young and adult mutants fail to stay on the rod and performance was not improved even by training for 7 days as in wild-type mice   (MGI Ref ID J:171603)
        • on a fixed-bar test, both young and adult mutants are unable to stay on the bar at all   (MGI Ref ID J:171603)
    • clonic seizures
      • mutants exhibit clonic seizures, which are most severe at 2-4 weeks of age, however seizures cease by 1 month of age   (MGI Ref ID J:171603)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:47547)
    • diluted coat color   (MGI Ref ID J:171603)
      • mice appear gray on a nonagouti background   (MGI Ref ID J:47547)
  • growth/size/body phenotype
  • slow postnatal weight gain
    • after the onset of neurological abnormalities around P10-P11, mutants show poor weight gain, even as adults   (MGI Ref ID J:171603)
  • nervous system phenotype
  • abnormal cerebellum morphology
    • cerebellar weights are slightly lower than of wild-type, and these weights scarcely increase from 3 weeks of age to adulthood   (MGI Ref ID J:171603)
    • however, no gross alteration of cerebellar architecture is seen during postnatal development or adulthood   (MGI Ref ID J:171603)
    • abnormal Purkinje cell dendrite morphology
      • although smooth endoplasmic reticulum (SER) is present in dendrites and soma of Purkinje cells, SER rarely extends into the dendritic spines of Purkinje cells in young mice   (MGI Ref ID J:171603)
      • Purkinje cell spines lack IP3 receptors in young mutants   (MGI Ref ID J:171603)
      • adults show SER and IP3 receptors in Purkinje cell spines, however, the tubular SER networks form poorly within the Purkinje cell spines and IP3 receptors are not as abundant as in wild-type mice   (MGI Ref ID J:171603)
  • clonic seizures
    • mutants exhibit clonic seizures, which are most severe at 2-4 weeks of age, however seizures cease by 1 month of age   (MGI Ref ID J:171603)
  • reduced long term depression
    • long term depression (LTD) at parallel fiber-Purkinje cell synapses is abolished in young mice, however LTD is restored in adults   (MGI Ref ID J:171603)
View Research Applications

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

Myo5ad-n related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Growth Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Myo5ad-n
Allele Name dilute neurological
Allele Type Spontaneous
Strain of OriginB10.D2-H2/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


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

Myo5ad-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]

Miyata M; Kishimoto Y; Tanaka M; Hashimoto K; Hirashima N; Murata Y; Kano M; Takagishi Y. 2011. A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease. J Neurosci 31(16):6067-6078. [PubMed: 21508232]  [MGI Ref ID J:171603]

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

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3175.00
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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 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).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4127.50
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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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.


See Terms of Use tab for General Terms and Conditions


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.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.5)