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Genes & Alleles

Bmp5;   Bmp5se;   Myo5a;   Myo5ad;   Rora;   Rorasg;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Species laboratory mouse Background Strain C57BL/6J Donor Strain Bmpse , Commercial breeder; Myo5ad NB strain ; Rorasg NB strain

Appearance
black
Related Genotype: + ? ?/? + +

black , small, wasted in appearance
Related Genotype: Rora ^sg ? ?/Rora^sg + +

slate grey, short ears
Related Genotype: + Myo5a^d Bmp5 ^se/? Myo5a^d Bmp5^se

Strain Description
Mice homozygous for the staggerer spontaneous mutation (Rora^sg) show a staggering gait, mild tremor, hypotonia, and small size. The cerebellar cortex of homozygous mutant mice is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The remaining granule cells migrate inward from the external layer prematurely and then degenerate. Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur. Staggerer mutant mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells. Kopmels et al. have reported a hyperproduction of IL1 biological activity and mRNA from LPS stimulated spleen cells of Rora^sg/Rora^sg mice on the C57BL/6J background relative to wild type siblings.

In this congenic strain the staggerer mutation is maintained in repulsionwith both the dilute (Myo5a^d) and short ear (Bmp5^se) mutations.

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Rorasg/Rorasg         involves: C57BL/6 homeostasis/metabolism phenotype abnormal lipid homeostasis (MGI Ref ID J:52105) plasma APOA1 and APOA2 concentrations are approximately 2 fold lower than in wild type controls on a normal diet, and the Apoa1 mRNA level in intestine is diminished relative to wild type, although liver expression of Apoa1 is comparable with wild type the production rate of APOA1 is diminished, but the fractional catabolic rate is comparable to wild type decreased circulating cholesterol level (MGI Ref ID J:52105) plasma total cholesterol levels are significantly lower in both male and female homozygotes than in wild type controls although cholesterol levels increase on an atherosclerotic diet, homozygotes still have lower plasma cholesterol than wild type controls also fed this diet decreased circulating HDL cholesterol level (MGI Ref ID J:52105) plasma HDL cholesterol level is significantly lower in both male and female homozygotes than in wild type controls, and females have significantly lower plasma HDL level than males both for the homozygous and wild type data sets. This is true even on an atherogenic diet. cardiovascular system phenotype atherosclerotic lesions (MGI Ref ID J:52105) the atherosclerotic lesions induced in homozygotes by 9 weeks of an atherosclerotic diet have a 6 fold greater area in female homozygotes and a 7.5 fold greater area in male homozygotes than those in wild type controls on the same diet increased susceptibility to atherosclerosis (MGI Ref ID J:52105) Although homozygotes fed a normal diet do not display abnormal atherosclerotic lesions, 9 weeks of an atherosclerotic diet induces exaggerated altherosclerotic lesions compared with wild type controls on the atherosclerotic diet immune system phenotype *normal* immune system phenotype (MGI Ref ID J:52105) white blood cell, lymphocyte, and neutrophil counts are not significantly different between homozygotes and wild type controls

Gene & Allele Details

Allele Symbol		Bmp5se
Allele Name		short ear
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
Allele Name		dilute
Common Name(s)		d; dv; maltese dilution;
Strain of Origin		old 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).
Allele Symbol		Rorasg
Allele Name		staggerer
Common Name(s)		RORalpha-; sg;
Strain of Origin		obese stock
Gene Symbol and Name		Rora, RAR-related orphan receptor alpha
Chromosome		9
Gene Common Name(s)		9530021D13Rik; MGC119326; MGC119329; NR1F1; RIKEN cDNA 9530021D13 gene; ROR1; ROR2; ROR3; RZR-ALPHA; RZRA; neuroscience mutagenesis facility, 267; nmf267; sg; staggerer;
General Note		Homozygotes for the staggerer mutation show a staggering gait, mild tremor, hypotonia, and small size (J:13140). The cerebellar cortex is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The deficiency of granule cells in theexternal granular layer is already evident at birth. The remaining granule cells migrate inward from the external layer prematurely and then degenerate (J:5304). Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur (J:5968). Golgi cells are not clearly distinguishable from Purkinje cells and it is possible that their number is also reduced (J:6185). Examination of the cerebellum of chimeras of Rorasg/Rorasg with wild-type using cellular markers for Purkinje cells and granule cells has shown that the Rorasg effect is intrinsic to the Purkinje cells and that granule cells are affected secondarily (J:28093, J:11945). Purkinje cells are probably defective as early as postnatal day 4 (J:6875). The granule cell deficiency may result from failure of Purkinje cells to adequately stimulate granule cell genesis (J:28092), as well as from later cell death due to failure of synapsis with Purkinje cells. Staggerer mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells.Other effects of Rorasg include persistence of multipleinnervation of Purkinje cells by climbing fibers (J:6260), reduction in size of deep cerebellar nuclei (J:6554) and inferior olivary complex (J:7948), and abnormal patterns of ganglioside composition and enzymatic activity (J:7910). Inferior olivary neuron numbers and definition of the olivary subnuclei are normal at birth but decline thereafter (J:20982). Death of inferior olivary neurons, like that of granule cells, is apparently an indirect effect of the Rorasg gene, caused by the lack of Purkinje cells with which to synapse (J:28468).Cerebellar cells of Rorasg/Rorasg mice at 7 days postnatal have immature cell surface components of a type which are present in +/+ cells at late prenatal and neonatal stages (J:6068, J:6088). In particular, the conversion of neural cell adhesion molecules (NCAM) from embryonic to adult form which is normally complete by 21 days does not occur in Rorasg/Rorasg mice (J:6930).Purkinje cells are the predominant siteof expression of calmodulin in the cerebellum of normal mice, but Rorasg/Rorasg mice do not produce any mRNA for the Calm1 locus in these cells (J:28469).Peripheral macrophages of staggerer mice, and those of several other cerebellar mutant mice, show greatly increased production of interleukin 1 beta (J:28095). Since Il1a and Tnf are also hyperexpressed in staggerer macrophages, the increases represent a general condition of hyperexcitability of these cells (J:1431). Il6 hyperexpression was also found in Rorasg/Rorasg mice but not in Grid2/+ animals (J:11652), although the latter did show hyperexpression of Il1a, Il1b, and Tnf (J:2228). Matsui et al. (J:28478) report elevated levels of somatostatin in brainsof several ataxic mouse mutants, including Rorasg homozygotes. The concentration of thyrotropin releasing hormone (TH) is also elevated in brains of these mutants (J:28467), and administration of a TRH analog, YM-14673, ameliorated the ataxia,suggesting that excess TRH may have an ataxic effect (J:18435).The reproductive life of Rorasg/Rorasg female mice is curtailed by late sexual maturation, irregular estrous cycling, and a shortened post-puberal period of reproduction (J:1960). Neonatal vestibular stimulation by rotation on a tilted plain improved gait and body balance in Rorasg/Rorasg mice and also led to improved mating efficiency (J:14535), suggesting that mating defects in these mice may bea secondary effect of the gait and balance difficulties. Long-term selection for ability to reproduce improved the maternal behavior of homozygous staggerer females without abolishing gait and balance difficulties, suggesting that Rorasg effects on reproduction are not entirely due to these difficulties (J:28416).Male staggerer mice are able to differentiate between pheromones secreted by estrous and anestrous females (J:15645). Some male Rorasg/Rorasg mice suffer from a penile disability, the penis in erection being directed rearward. The disability is intermittent even in those males subject to it, and is of little importance in determining male mating deficiency (J:32193).Although Rorasg/+ heterozygotes are behaviorally normal with normal cerebellar cytoarchitecture and composition, these heterozygotes suffer accelerated loss of Purkinje cells, granule cells, and inferior olivary neurons with age (J:1431).Rorasg/Rorasg homozygotesusually die during the fourth week of life. Some survive to adulthood, and one male has bred (J:13140).
Molecular Note		This allele contains a 6.5kb genomic deletion of an exon encoding part of the ligand binding domain. The deletion results in an exon-skipping event that introduces a shift in the reading frame. The resulting protein is predicted to be truncated due to introduction of a premature stop codon. [MGI Ref ID J:31470]

Control Information

	Control
	Untyped from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Genotyping Protocols

Rora^sg

Related Strains

Strains carrying   Bmp5^se allele

000004	ABP/LeJ
000578	B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
000056	B6.Cg-Bmp5se/J
000253	DLS/LeJ
000644	SEA/GnJ
000270	SEC/1GnLeJ

View Strains carrying   Bmp5^se     (6 strains)

Strains carrying   Myo5a^d 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
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
000390	STOCK Myo5ad Ds/J
000994	STOCK a Myo5ad Mregdsu/J
000286	STOCK a/a Myo5ad fd/+ +/J

View Strains carrying   Myo5a^d     (42 strains)

Strains carrying   Rora^sg allele

002651	B6.C3(Cg)-Rorasg/J
000237	B6C3Fe a/a-Rorasg/J

View Strains carrying   Rora^sg     (2 strains)

Strains carrying other alleles of Bmp5

001496	C57BL/6J-Bmp5se-4J/J
005420	C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/J
005421	CBy;B6-Bmp5cfe-se8J/J

View Strains carrying other alleles of Bmp5     (3 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)

Strains carrying other alleles of Rora

005047

C57BL/6J-Rorasg-3J/J

View Strains carrying other alleles of Rora     (1 strain)

Additional Web Information

Congenic Nomenclature

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 related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
Griscelli Syndrome

Rora^sg related

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects (Purkinje cell defect)
Receptor Defects
Tremor Defects

References

Selected Reference(s)

Mamontova A; Seguret-Mace S; Esposito B; Chaniale C; Bouly M; Delhaye-Bouchaud N; Luc G; Staels B; Duverger N; Mariani J; Tedgui A. 1998. Severe atherosclerosis and hypoalphalipoproteinemia in the staggerer mouse, a mutant of the nuclear receptor RORalpha. Circulation 98(24):2738-43. [PubMed: 9851961]  [MGI Ref ID J:52105]

Additional References

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Price and Supply Information

Strain Name:	B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J
Stock Number:	000285

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes	Cryorecovery of Strains Needing Progeny Testing. 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 untested males and two untested females (two pairs) will be recovered, 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 overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. 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 (at least two untested pairs) 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 or 1-207-288-5845. 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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Control Information	View Control Information in Strain Details.

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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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