JAX Mice Database - 000619 FS/EiJ

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Strain Name:	FS/EiJ
Stock Number:	000619
Availability:	Repository-Cryopreserved

Price and Supply Information
General Terms and Conditions

Genes & Alleles

Myo7a; Myo7a^sh1; Oca2; Oca2^p; Tyr; Tyr^c-ch; fr;

Product Information

Strain Details

Type Inbred Strain

Additional information on Inbred Strains.

Type JAX^® GEMM^® Strain - Spontaneous Mutation

Additional information on JAX^® GEMM^® Strains.

Species laboratory mouse

Generation F102p

Appearance
pink-eyed chinchilla with rough coat
Related Genotype: A/A Tyrp1^b/Tyrp1^b Oca2^p Tyr^c-ch Mod2^b Myo7a^sh1 Hbb^d fr/Oca2^p Tyr^c-ch Mod2^b Myo7a^sh1 Hbb^d fr
Important Note
This strain is homozygous for Mod2^b, Myo5a^sh1, Hbb^d, and fr.
Strain Description
The FS/Ei strain was originally used as a linkage testing stock for gene mapping. It is homozygous for several visible recessive mutations including brown (Tyrp1^b), pink-eyed dilution (Oca2^p), chinchilla (Tyr^c-ch), frizzy (fr), and the neurological mutation shaker 1 (Myo7a^sh1). It is also homozygous for a couple allelic variants that can be easily typed (Mod2^b and Hbb^d). Mice homozygous for the shaker 1 show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist of degeneration of the organ of Corti, the spiral ganglion, and the stria vascularis in the cochlea, and of the saccular macula and the vestibular ganglion in the vestibular labyrinth.
Strain Development
The original shaker-1 mutation was found by Lord and Gates in 1929 (Lord, E.M.and W.H. Gates Am. Nat. 69:435-442). It arose in the Bagg albino stock of MacDowell 1929. It was maintained at the Jackson Laboratory in the pink-eye chinchilla shaker-1 stock of Dr. G. D. Snell. This stock was of mixed origin and had come from a cross of DBA and a pink-eyed chinchilla shaker-1 strain carrying a translocation described only as T(1;?)c. The mutation frizzy (fr) which arose spontaneously in the stock was also maintained in it and inbreeding was as a homozygous stock started in 1954. The stock is now known as the FS/Ei strain and is homozygous for Mod2^b, Myo7a^sh1, Hbb^d and fr as well as Oca2^p, Tyr^c-ch and Tyrp1^b. It was cryopreserved by mating homozygotes at F102 in 1993.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.
fr/fr
involves: DBA * STOCK Tyr^c-ch Oca2^p Myo7a^sh1
skin/coat/nails phenotype

abnormal coat appearance (MGI Ref ID J:92)

in some outcrosses, abnormal coat appearance was difficult to identify in subsequent F2 mice

the coat is short and rough from first appearance until 6-7 weeks of age

between 6 and 7 weeks of age fur may appear normal

much older mice have a short and thin coat

disheveled coat (MGI Ref ID J:92)

sparse hair (MGI Ref ID J:92)

abnormal hair growth (MGI Ref ID J:92)

short hair (MGI Ref ID J:92)

sparse hair (MGI Ref ID J:92)

abnormal hair shaft morphology (MGI Ref ID J:92)

abnormal hair medulla (MGI Ref ID J:92)

histology shows septa between air-spaces are thicker, significantly reducing the expected size of the air spaces

rough hair (MGI Ref ID J:92)

touch/vibrissae phenotype

abnormal vibrissae morphology (MGI Ref ID J:92)

curly vibrissae (MGI Ref ID J:92)

noticeable by 1-2 days of age

Gene & Allele Details

Allele Symbol		Myo7a^sh1
Allele Name		shaker 1
Common Name(s)		sh1; shaker-1;
Strain of Origin		BALB at F12
Gene Symbol and Name		Myo7a, myosin VIIa
Chromosome		7
Gene Common Name(s)		DFNA11; DFNB2; MYOVIIA; MYU7A; Myo7; NSRD2; USH1B; myosin VII; neuroscience mutagenesis facility, 371; nmf371; sh-1; sh1; shaker 1;
Molecular Note		A G-to-C transversion mutation is predicted to result in an arginine to proline change at position 502 in the encoded protein. This mutation is predicted to lie within the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that normal levels of the protein was expressed. [MGI Ref ID J:23257]

Allele Symbol		Oca2^p
Allele Name		pink-eyed dilution
Common Name(s)		p;
Strain of Origin		Asiatic fancy mice
Gene Symbol and Name		Oca2, oculocutaneous albinism II
Chromosome		7
Gene Common Name(s)		BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note		p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782). Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. \R(J:5346) found the structure to be normal, with premature termination of the melanizationprocess. In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988). A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600).

Allele Symbol		Tyr^c-ch
Allele Name		chinchilla
Common Name(s)		c^ch; c^r;
Strain of Origin		fancier's stock
Gene Symbol and Name		Tyr, tyrosinase
Chromosome		7
Gene Common Name(s)		C; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35;
Molecular Note		The mutation in the chinchilla allele was found to be a G to A point mutation that results in an amino acid change at position 464 from alanine to threonine. [MGI Ref ID J:19279]

Allele Symbol		fr
Allele Name		frizzy
Strain of Origin		DBA x Tyr Oca2 Myo7a

Control Information

	Control
	None Available

Considerations for Choosing Controls
Control Pricing Information for JAX^® GEMM^® Strains

Related Strains

Strains carrying Myo7a^sh1 allele

000271 SH1/LeJ

View Strains carrying Myo7a^sh1 (1 strain)

Strains carrying Oca2^p allele

000004 ABP/LeJ

000577 B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J

001059 B6By.Cg-Oca2^p/J

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

001618 STOCK Oca2^p/Oca2^p Prop1^df/J

View Strains carrying Oca2^p (5 strains)

Strains carrying Tyr^c-ch allele

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

001279 129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

000578 B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

004828 FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ

000271 SH1/LeJ

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

View Strains carrying Tyr^c-ch (6 strains)

Strains carrying other alleles of Myo7a

003184 B6.Cg-Myo7a^sh1-8J/J

005468 C57BL/6J-Myo7a^sh1-11J/J

002919 STOCK Myo7a^sh1-7J/J

View Strains carrying other alleles of Myo7a (3 strains)

Strains carrying other alleles of Oca2

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

001279 129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

002460 C3H/HeJ-Oca2^p-J Is(7;1)40H/J

000513 C3H/HeJ-Oca2^p-J/J

001136 C57BL/6J-Oca2^p-un+2J/J

001506 C57BL/6J-Oca2^p-un+3J/J

001810 C57BL/6J-Oca2^p-un+4J/J

001513 C57BL/6J-Oca2^p-un+5J/J

001499 C57BL/6J-Oca2^p-un+6J/J

001033 C57BL/6J-Oca2^p-un+J/J

000028 C57BL/6J-Oca2^p-un/J

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

001584 STOCK Oca2^p-J/Oca2^p-bs/J

001585 STOCK Oca2^p-d/Oca2^p-25H/J

000823 STOCK Oca2^p-d/Oca2^p-6H/J

001747 STOCK Oca2^p-d/Oca2^p-cp/J

View Strains carrying other alleles of Oca2 (18 strains)

Strains carrying other alleles of Tyr

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

005445 A.B6 Tyr⁺-Cyba^nmf333/J

005012 A.B6 Tyr⁺-Myo5a^d-l31J/J

002565 A.B6-Tyr⁺/J

001017 AKXD10/TyJ

000765 AKXD13/TyJ

000954 AKXD15/TyJ

000958 AKXD16/TyJ

001093 AKXD18/TyJ

001062 AKXD21/TyJ

000947 AKXD22/TyJ

000969 AKXD24/TyJ

000777 AKXD6/TyJ

000763 AKXD9/TyJ

000409 B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ

000418 B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ

000432 B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ

000580 B10.D2/nSn-Tyr^c-4J/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

000058 B6(Cg)-Tyr^c-2J/J

000383 B6.C-Tyr^c H1^b Hbb^d/ByJ

007484 B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000035 B6.Cg-Tyr^c-J/J

000104 B6.Cg-Tyr^c-h/J

000054 B6.D2-Tyr^c-p/J

000899 C.B6-Tyr⁺ Hbb^s/J

000339 C3H/HeJ-Tyr^c-9J/J

001294 C3H/HeJ-Tyr^c-a/J

001002 C57BL/10SnJ-Tyr^c-11J/J

001006 CBA/J-Tyr^c-10J/J

000657 CE/J

007483 FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

002281 NFS.C58-Tyr⁺/J

004304 NOD.CBALs-Tyr⁺/LtJ

005115 NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ

005114 NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ

001759 STOCK A Tyr^c Sha/J

000006 STOCK Hk Tyr^c/J

000206 STOCK a/a Tyr^c-h/J

View Strains carrying other alleles of Tyr (40 strains)

Research Applications

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

Myo7a^sh1 related

Dermatology Research
Color and White Spotting Defects (oculocutaneous albinism, type I)

Mouse/Human Gene Homologs
Usher syndrome, type IB (deafness, neurosensory, autosomal recessive, 2, and deafness, autosomal dominant nonsyndromic sensorineural, 11)

Neurobiology Research
Tremor Defects
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Oca2^p related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2

Neurobiology Research
Angelman syndrome

Tyr^c-ch related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Mouse/Human Gene Homologs
albinism, tyrosine negative

fr related

Dermatology Research
Skin and Hair Texture Defects

References

Additional References

Price and Supply Information

Strain Name:	FS/EiJ
Stock Number:	000619

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

USA, Canada and Mexico
International

*Pricing for Shipping Destination selected:

USA, Canada and Mexico

Price(s) in US dollars ($)
Cryorecovery Fee	$1900.00

Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes	Cryorecovery - Standard. 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 males and two females (two pairs) will be provided, 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 delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. *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.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details. View Control Pricing Information for JAX^® Strains.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

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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000004	ABP/LeJ
000577	B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J
001059	B6By.Cg-Oca2^p/J
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J
001618	STOCK Oca2^p/Oca2^p Prop1^df/J

000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
000578	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J
004828	FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ
000271	SH1/LeJ
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

003184	B6.Cg-Myo7a^sh1-8J/J
005468	C57BL/6J-Myo7a^sh1-11J/J
002919	STOCK Myo7a^sh1-7J/J

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
002460	C3H/HeJ-Oca2^p-J Is(7;1)40H/J
000513	C3H/HeJ-Oca2^p-J/J
001136	C57BL/6J-Oca2^p-un+2J/J
001506	C57BL/6J-Oca2^p-un+3J/J
001810	C57BL/6J-Oca2^p-un+4J/J
001513	C57BL/6J-Oca2^p-un+5J/J
001499	C57BL/6J-Oca2^p-un+6J/J
001033	C57BL/6J-Oca2^p-un+J/J
000028	C57BL/6J-Oca2^p-un/J
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
001584	STOCK Oca2^p-J/Oca2^p-bs/J
001585	STOCK Oca2^p-d/Oca2^p-25H/J
000823	STOCK Oca2^p-d/Oca2^p-6H/J
001747	STOCK Oca2^p-d/Oca2^p-cp/J

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
005445	A.B6 Tyr⁺-Cyba^nmf333/J
005012	A.B6 Tyr⁺-Myo5a^d-l31J/J
002565	A.B6-Tyr⁺/J
001017	AKXD10/TyJ
000765	AKXD13/TyJ
000954	AKXD15/TyJ
000958	AKXD16/TyJ
001093	AKXD18/TyJ
001062	AKXD21/TyJ
000947	AKXD22/TyJ
000969	AKXD24/TyJ
000777	AKXD6/TyJ
000763	AKXD9/TyJ
000409	B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ
000418	B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ
000432	B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ
000580	B10.D2/nSn-Tyr^c-4J/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
000058	B6(Cg)-Tyr^c-2J/J
000383	B6.C-Tyr^c H1^b Hbb^d/ByJ
007484	B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000035	B6.Cg-Tyr^c-J/J
000104	B6.Cg-Tyr^c-h/J
000054	B6.D2-Tyr^c-p/J
000899	C.B6-Tyr⁺ Hbb^s/J
000339	C3H/HeJ-Tyr^c-9J/J
001294	C3H/HeJ-Tyr^c-a/J
001002	C57BL/10SnJ-Tyr^c-11J/J
001006	CBA/J-Tyr^c-10J/J
000657	CE/J
007483	FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
002281	NFS.C58-Tyr⁺/J
004304	NOD.CBALs-Tyr⁺/LtJ
005115	NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ
005114	NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ
001759	STOCK A Tyr^c Sha/J
000006	STOCK Hk Tyr^c/J
000206	STOCK a/a Tyr^c-h/J

Strain Name:

FS/EiJ

Stock Number:

000619

Availability:

Repository-Cryopreserved

Price and Supply Information

General Terms and Conditions

Product Information

Strain Details

fr/fr

Gene & Allele Details

Control Information

Related Strains

Research Applications

References

Price and Supply Information

Price Details

*Pricing for Shipping Destination selected:

USA, Canada and Mexico

Supply Details

General Terms and Conditions

The Jackson Laboratory's Genotype Promise