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 Generation Definitions

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
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

	Elejalde Disease - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Griscelli Syndrome, Type 1; GS1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      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: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 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:

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 provided by MGI

Allele Symbol		Myo5ad-n
Allele Name		dilute neurological
Allele Type		Spontaneous
Strain of Origin		B10.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]

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]

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, RG10/RG30.

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

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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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