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 Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F168p

Appearance
Bmp5^se: black, short ear
Related Genotype: a/a + Bmp5^se/? Bmp5^se

Myo5a^d-l: nonagouti dilute (grey)
Related Genotype: a/a Myo5a^d-l +/Myo5a^d-l ?

Myo5a^d-l: black
Related Genotype: a/a ? +/+ ? or a/a Myo5a^d-1 +/+ Bmp5^se

Bmp5^se: black, normal ears
Related Genotype: a/a ? +/+ ? or a/a Myo5a^d-1 +/+ Bmp5^se

Important Note
This strain is segregating for Myo5a^d-l and Bmp5^se, which are maintained in repulsion.

Description
Mice homozygous for the dilute-lethal spontaneous mutation (Myo5a^d-l) display a severe neuromuscular disorder characterized by convulsions and opisthotonus. Homozygous mutant mice usually die by approximately 3 weeks of age. Dilute lethal homozygotes lack smooth endoplasmic reticulum in the dendritic spine of Purkinje cells causing an absence of intracellular calcium. Loss of this intracellular calcium may be the cause of dilute-lethal neurological symptoms. Homozygous dilute-neurological mutant mice (Myo5a^d-n, Stock No. 001013) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal homozygotes. In this DLS/Le inbred strain the dilute-lethal mutation is maintained in repulsion with short ear (Bmp^se), closely linked mutations on Chromosome 9.

Control Information

	Control
	? +/+ ? untested from colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Bmp5^se allele

000004	ABP/LeJ
000578	B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
000056	B6.Cg-Bmp5se/J
000285	B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J
000644	SEA/GnJ
000270	SEC/1GnLeJ

View Strains carrying   Bmp5^se     (6 strains)

Strains carrying other alleles of Bmp5

001496	B6(Cg)-Bmp5se-4J/J
005348	BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ
005420	C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/J
005421	CBy;B6-Bmp5cfe-se8J/J

View Strains carrying other alleles of Bmp5     (4 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
001013	B10.D2/nSnJ-Myo5ad-n/J
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
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

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Myo5a^d-l/Myo5a^d-l

        C57BL

• behavior/neurological phenotype
• clonic seizures (MGI Ref ID J:12978)
  • 9 day old mutants show slight convulsive limb movements
  • by 12 days of age convulsions are marked with fore-limbs thrashing
  • by 15 days of age convulsions are triggered when mouse is disturbed, overbalances and falls and occur while mouse regains upright posture
• impaired balance (MGI Ref ID J:12978)
  • hardly able to walk by 12 days of age
  • moves on its side and in circles trying to stand
• impaired limb coordination (MGI Ref ID J:12978)
• impaired righting response (MGI Ref ID J:12978)
• opisthotonus (MGI Ref ID J:12978)
  • arching is very extreme
• muscle phenotype
• opisthotonus (MGI Ref ID J:12978)
  • arching is very extreme
• nervous system phenotype
• clonic seizures (MGI Ref ID J:12978)
  • 9 day old mutants show slight convulsive limb movements
  • by 12 days of age convulsions are marked with fore-limbs thrashing
  • by 15 days of age convulsions are triggered when mouse is disturbed, overbalances and falls and occur while mouse regains upright posture
• pigmentation phenotype
• diluted coat color (MGI Ref ID J:12978)
• skin/coat/nails phenotype
• diluted coat color (MGI Ref ID J:12978)

View Research Applications

Research Applications

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

Bmp5^se related

Developmental Biology Research
Growth Defects
Skeletal Defects

Myo5a^d-l related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Growth Defects
Skeletal Defects

Endocrine Deficiency Research
Adrenal Medulla Defects
Hypothalamus/Pituitary Defects

Internal/Organ Research
Adrenal Medulla Defects

Mouse/Human Gene Homologs
Griscelli Syndrome

Neurobiology Research
Cerebellar Defects
      Purkinje cell defect
Neuromuscular Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Bmp5se
Allele Name		short ear
Allele Type		Spontaneous
Common Name(s)		seGnJ;
Strain of Origin		mice from Abbie Lathrop mouse farm
Gene Symbol and Name		Bmp5, bone morphogenetic protein 5
Chromosome		9
Gene Common Name(s)		AU023399; MGC34244; expressed sequence AU023399; se; short ear;
Molecular Note		The C to T transition creates a stop codon at amino acid 208. The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule. [MGI Ref ID J:21484]
Allele Symbol		Myo5ad-l
Allele Name		dilute lethal
Allele Type		Spontaneous
Common Name(s)		dl;
Strain of Origin		C57BL/Gr
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-l, dilute-lethal, recessive. Dilute-lethal arose in the C57BL/Gr strain. The color of Myo5ad-l homozygotes is identical to that of Myo5ad homozygotes, but dilute-lethal mice develop a severe neuromuscular disordercharacterized by convulsions and opisthotonus (arching upward of the head and tail), and they usually die at about 3 weeks of age (J:12978).

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]

Bmp5^se related

GREEN MC. 1958. Effects of the short ear gene in the mouse on cartilage formation in healing bone fractures. J Exp Zool 137(1):75-88. [PubMed: 13563786]  [MGI Ref ID J:13011]

Green EL; Green MC. 1946. Effect of the short ear gene on number of ribs and presacral vertebrae in the house mouse Am Naturalist 80:619-25.  [MGI Ref ID J:100198]

Green EL; Green MC. 1942. The development of three manifestations of the short ear gene in the mouse J Morphol 70:1-19.  [MGI Ref ID J:15478]

Green MC. 1951. Further morphological effects of the short ear gene in the house mouse. J Morphol 88:1-22.  [MGI Ref ID J:13091]

Green MC. 1968. Mechanism of the pleiotropic effects of the short-ear mutant gene in the mouse. J Exp Zool 167(2):129-50. [PubMed: 5692092]  [MGI Ref ID J:5086]

Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. [PubMed: 1018005]  [MGI Ref ID J:5776]

Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990]  [MGI Ref ID J:61324]

Katagiri T; Boorla S; Frendo JL; Hogan BL; Karsenty G. 1998. Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Dev Genet 22(4):340-8. [PubMed: 9664686]  [MGI Ref ID J:48538]

King JA; Marker PC; Seung KJ; Kingsley DM. 1994. BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice. Dev Biol 166(1):112-22. [PubMed: 7958439]  [MGI Ref ID J:21484]

Lacombe D; Toutain A; Gorlin RJ; Oley CA; Battin J. 1994. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet 37(4):184-91. [PubMed: 7710253]  [MGI Ref ID J:24474]

Lynch CJ. 1921. Short ears, an autosomal mutation in the house mouse Am Naturalist 55:421-426.  [MGI Ref ID J:14849]

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

Pfendler KC; Yoon J; Taborn GU; Kuehn MR; Iannaccone PM. 2000. Nodal and bone morphogenetic protein 5 interact in murine mesoderm formation and implantation. Genesis 28(1):1-14. [PubMed: 11020711]  [MGI Ref ID J:65690]

Sloane JA; Vartanian TK. 2007. Myosin Va controls oligodendrocyte morphogenesis and myelination. J Neurosci 27(42):11366-75. [PubMed: 17942731]  [MGI Ref ID J:126066]

Solloway MJ; Dudley AT; Bikoff EK; Lyons KM; Hogan BL; Robertson EJ. 1998. Mice lacking Bmp6 function. Dev Genet 22(4):321-39. [PubMed: 9664685]  [MGI Ref ID J:48561]

Solloway MJ; Robertson EJ. 1999. Early embryonic lethality in Bmp5;Bmp7 double mutant mice suggests functional redundancy within the 60A subgroup. Development 126(8):1753-68. [PubMed: 10079236]  [MGI Ref ID J:53294]

Myo5a^d-l related

Alami NH; Jung P; Brown A. 2009. Myosin Va increases the efficiency of neurofilament transport by decreasing the duration of long-term pauses. J Neurosci 29(20):6625-34. [PubMed: 19458233]  [MGI Ref ID J:148845]

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]

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]

Murad S; Kishimoto Y. 1975. Alpha hydroxylation of lignoceric acid to cerebronic acid during brain development. Diminished hydroxylase activity in myelin-deficient mouse mutants. J Biol Chem 250(15):5841-6. [PubMed: 1150661]  [MGI Ref ID J:106960]

Roder IV; Petersen Y; Choi KR; Witzemann V; Hammer JA rd; Rudolf R. 2008. Role of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivo. PLoS ONE 3(12):e3871. [PubMed: 19057648]  [MGI Ref ID J:144368]

Sawada K; Komatsu S; Haga H; Oda S; Fukui Y. 1999. Abnormal expression of tyrosine hydroxylase immunoreactivity in Purkinje cells precedes the onset of ataxia in dilute-lethal mice. Brain Res 844(1-2):188-91. [PubMed: 10536275]  [MGI Ref ID J:58208]

Sawada K; Komatsu S; Haga H; Sun XZ; Hisano S; Fukui Y. 1999. Abnormal expression of tyrosine hydroxylase immunoreactivity in cerebellar cortex of ataxic mutant mice. Brain Res 829(1-2):107-12. [PubMed: 10350535]  [MGI Ref ID J:55767]

Sawada K; Sakata-Haga H; Jeong YG; Azad MA; Ohkita S; Fukui Y. 2004. Purkinje cell loss in the cerebellum of ataxic mutant mouse, dilute-lethal: a fractionator study. Congenit Anom (Kyoto) 44(4):189-95. [PubMed: 15566409]  [MGI Ref ID J:104745]

Schnell E; Nicoll RA. 2001. Hippocampal synaptic transmission and plasticity are preserved in myosin Va mutant mice. J Neurophysiol 85(4):1498-501. [PubMed: 11287473]  [MGI Ref ID J:104015]

Searle AG. 1952. A lethal allele of dilute in the house mouse. Heredity 6:395-401.  [MGI Ref ID J:12978]

Searle AG. 1951. New mutant, allele of Maltese dilution, d Mouse News Lett 4:10.  [MGI Ref ID J:24768]

Sloane JA; Vartanian TK. 2007. Myosin Va controls oligodendrocyte morphogenesis and myelination. J Neurosci 27(42):11366-75. [PubMed: 17942731]  [MGI Ref ID J:126066]

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]

Winterbourn CC; Woolf F; Woolf LI. 1971. Brain lipids of mice homozygous for the gene 'dilute lethal' (d). J Neurochem 18(6):1077-86. [PubMed: 4327930]  [MGI Ref ID J:5222]

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]

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 of Strains Needing Progeny Testing. At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). 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). This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note
This strain is segregating for Myo5ad-l and Bmp5se, which are maintained in repulsion.

Control Information

	Control
	? +/+ ? untested from colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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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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"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.

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