JAX Mice Database - 000049 C57BL/6J-Kit<W-v>/J

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Strain Name:	C57BL/6J-Kit^W-v/J
Stock Number:	000049
Availability:	Level 4

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General Terms and Conditions

Genes & Alleles

Kit; Kit^W-v;

Product Information

Strain Details

Type JAX^® GEMM^® Strain - Mutant Strain

Additional information on JAX^® GEMM^® Strains.

Type JAX^® GEMM^® Strain - Spontaneous Mutation

Mating System Other - see Strain Mating Scheme Text (Female x Male)
heterozygote x C57BL/6J or C57BL/6J x heterozygote

Species laboratory mouse

Generation N91 (11-JAN-08)

Appearance
gray with light belly and white spot, light tail and feet, affected
Related Genotype: a/a Kit^W-v/+

black
Related Genotype: a/a +/+
Strain Description
Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. Kit^W-v homozygotes resemble Kit^W homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone.

Related Disease (OMIM) Terms

Piebald Trait; PBT

Mammalian Phenotype Terms assigned by genotype

Kit^W-v/Kit⁺
involves: C57BL/6
pigmentation phenotype

abnormal coat color (MGI Ref ID J:2447)

variable amount of white spotting

slightly diluted coat color

skin/coat/nails phenotype

abnormal coat color (MGI Ref ID J:2447)

variable amount of white spotting

slightly diluted coat color

hematopoietic system phenotype

macrocytic anemia (MGI Ref ID J:3400)

slightly macrocytic

reproductive system phenotype

*normal* reproductive system phenotype (MGI Ref ID J:2447)

fertile

Kit^W-v/Kit^W-v
involves: C57BL/6
pigmentation phenotype

abnormal coat color (MGI Ref ID J:2447)

white coat color

skin/coat/nails phenotype

abnormal coat color (MGI Ref ID J:2447)

white coat color

reproductive system phenotype

infertility (MGI Ref ID J:2447)

hematopoietic system phenotype

macrocytic anemia (MGI Ref ID J:3400)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.
Kit^W-v/Kit^W-v
Background Not Specified
hearing/vestibular/ear phenotype

abnormal cochlea morphology (MGI Ref ID J:5179)

variable cochlea defects that increased in severity as mutants aged

abnormal organ of Corti (MGI Ref ID J:5179)

form of the organ of Corti was completely changed with no recognizable structure remaining in mutants older than 300 days

abnormal cochlear outer hair cell morphology (MGI Ref ID J:5179)

outer hair cells in the organ of Corti were mostly missing or malformed

abnormal stria vascularis (MGI Ref ID J:5179)

abnormal stria vascularis vasculature (MGI Ref ID J:5179)

vascularity was reduced

thin stria vascularis (MGI Ref ID J:5179)

thinner than normal

abnormal tectorial membrane morphology (MGI Ref ID J:5179)

the tectorial membrane was distorted and no longer in contact with the organ of Corti

the tectorial membrane grew thicker and was usually attached to Reissner's membrane by 300 days of age

abnormal ear pigmentation (MGI Ref ID J:5179)

abnormal pigmentation in the inner ear such as unpigmented stria

abnormal otolith morphology (MGI Ref ID J:5179)

increase in the amount of otoliths

enlarged otoliths (MGI Ref ID J:5179)

otolith granules were larger

abnormal saccule morphology (MGI Ref ID J:5179)

variable saccule defects that increased in severity as mutants aged

vestibular hair cell degeneration (MGI Ref ID J:5179)

some hair cells in the macula were lost and many others became enlarged and spherical

nervous system phenotype

abnormal cochlear ganglion morphology (MGI Ref ID J:5179)

about 50% had abnormal spiral ganglion, with cells appearing immature and occurring in clumps in certain regions

cochlear ganglion degeneration (MGI Ref ID J:5179)

reduced cell density and severe degeneration in mutants over 140 days old so that spiral canal was virtually empty

abnormal cochlear outer hair cell morphology (MGI Ref ID J:5179)

outer hair cells in the organ of Corti were mostly missing or malformed

vestibular hair cell degeneration (MGI Ref ID J:5179)

some hair cells in the macula were lost and many others became enlarged and spherical

pigmentation phenotype

abnormal ear pigmentation (MGI Ref ID J:5179)

abnormal pigmentation in the inner ear such as unpigmented stria

skin/coat/nails phenotype

abnormal ear pigmentation (MGI Ref ID J:5179)

abnormal pigmentation in the inner ear such as unpigmented stria

cardiovascular system phenotype

abnormal stria vascularis vasculature (MGI Ref ID J:5179)

vascularity was reduced

craniofacial phenotype

abnormal ear pigmentation (MGI Ref ID J:5179)

abnormal pigmentation in the inner ear such as unpigmented stria

Kit^W-v/Kit^W-v
involves: CBA/Ca
hearing/vestibular/ear phenotype

abnormal ear pigmentation (MGI Ref ID J:4062)

about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

no strial pigmentation in mutants that lack an endocochlear potential

abnormal stria vascularis (MGI Ref ID J:4062)

abnormal stria vascularis vasculature (MGI Ref ID J:4062)

the capillary network is poorly developed

abnormal strial basal cells (MGI Ref ID J:4062)

basal cells have no cytoplasmic projections

basal cells of the stria vascularis do not contain premelanosomes or melanosomes

abnormal strial marginal cells (MGI Ref ID J:4062)

marginal cells have poorly developed basolateral projections

absent strial intermediate cells (MGI Ref ID J:4062)

no pigment is present

89% lack melanocytes within the stria vascularis

thin stria vascularis (MGI Ref ID J:4062)

strias are noticeably thinner and are reduced to a two-layered tissue composed only of marginal and basal cells

absent endocochlear potential (MGI Ref ID J:4062)

89% of homozygous mutants lack an endocochlear potential

pigmentation phenotype

abnormal ear pigmentation (MGI Ref ID J:4062)

about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

no strial pigmentation in mutants that lack an endocochlear potential

abnormal melanocyte morphology (MGI Ref ID J:4062)

no melanocytes detected in dorsal skin or in hair follicles

abnormal melanosome morphology (MGI Ref ID J:4062)

in mutants that do have endocochlear potential, melanin granules were rarely observed and no melanosomes were detected in marginal or basal cells

absent strial intermediate cells (MGI Ref ID J:4062)

no pigment is present

89% lack melanocytes within the stria vascularis

skin/coat/nails phenotype

abnormal ear pigmentation (MGI Ref ID J:4062)

about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

no strial pigmentation in mutants that lack an endocochlear potential

cardiovascular system phenotype

abnormal stria vascularis vasculature (MGI Ref ID J:4062)

the capillary network is poorly developed

craniofacial phenotype

abnormal ear pigmentation (MGI Ref ID J:4062)

about half of the pinnae are pigmented and 21% of inner ears show some pigmentation of the vestibular region

no strial pigmentation in mutants that lack an endocochlear potential

Gene & Allele Details

Allele Symbol		Kit^W-v
Allele Name		viable dominant spotting
Common Name(s)		W^v; Wv;
Strain of Origin		C57BL
Gene Symbol and Name		Kit, kit oncogene
Chromosome		5
Gene Common Name(s)		Bs; C-Kit; CD117; Dominant white spotting; Fdc; Gsfsco1; Gsfsco5; Gsfsow3; PBT; SCFR; SCO1; SCO5; SOW3; Ssm; Steel Factor Receptor; Tr-kit; W; belly-spot; dominant spotting; gsf spotted coat 1; gsf spotted coat 5; phenotype like Sl or W 3; spotted sterile male;
Molecular Note		A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. [MGI Ref ID J:24351]

Control Information

Allele	Control
Kit^W-v	Wild-type from the colony

Considerations for Choosing Controls

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Related Strains

Strains carrying Kit^W-v allele

000599 B6 x B6CBCa A^w-J/A-T(5;13)264Ca Kit^W-v/J

000194 B6.Cg-Lx Kit^W-v/J

000350 B6By.Cg-Kit^W-v Mitf^Mi-wh T/J

100410 WBB6F1/J-Kit^W/Kit^W-v/J

View Strains carrying Kit^W-v (4 strains)

Strains carrying other alleles of Kit

006564 B6(C)-Kit^W-41J Gusb^mps/BrkJ

000495 B6.C-H38^c/By-Kit^W-56J/J

000560 B6.C-H7^b/By Kit^W-50J/J

000122 B6.C3-Kit^W-44J/J

000991 B6.C58-Kit^W-57J/J

002283 B6.Cg-Kit^W-19H/EiJ

000133 B6.Cg-Kit^W-24J/J

000139 B6.Cg-Kit^W-25J/J

005051 B6.Cg-Kit^W-sh/HNihrJaeBsmJ

000164 B6.Cg-Kit^W/J

000171 B6.D2-Kit^W-45J/J

001563 B6.D2-Kit^W-73J/J

001177 B6.LP-Kit^W-49J/J

000627 C3H/HeJ-Kit^W-x/J

000847 C3Sn.B6-Kit^W-39J/J

000166 C57BL/6J-Kit^W-17J/J

000167 C57BL/6J-Kit^W-18J/J

000169 C57BL/6J-Kit^W-20J/J

000117 C57BL/6J-Kit^W-34J/J

000128 C57BL/6J-Kit^W-35J/J

000134 C57BL/6J-Kit^W-37J/J

000062 C57BL/6J-Kit^W-39J/J

000121 C57BL/6J-Kit^W-40J/J

000119 C57BL/6J-Kit^W-41J/J

000127 C57BL/6J-Kit^W-42J/J

000129 C57BL/6J-Kit^W-43J/J

000990 C57BL/6J-Kit^W-55J/J

001179 C57BL/6J-Kit^W-62J/J

000965 CBACa.C3-Kit^W-x/J

000092 FL/1Re-Kit^W/J

000993 NZB/BlNJ-Kit^W-59J/J

000692 WB/ReJ Kit^W/J

100410 WBB6F1/J-Kit^W/Kit^W-v/J

View Strains carrying other alleles of Kit (33 strains)

Additional Web Information

Genetic Quality Control Annual Report

Animal Health Reports

Room Number AX5

Research Applications

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

Kit^W-v related

Cancer Research
Growth Factors/Receptors/Cytokines
Increased Tumor Incidence (Gonadal Tumors: ovarian)
Oncogenes

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects
Gonad Defects
Skin Defects

Immunology and Inflammation Research
Immunodeficiency (Mast Cell Deficiency)

Mouse/Human Gene Homologs
piebaldism
synpolydactyly

Neurobiology Research
Receptor Defects
Vestibular and Hearing Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads (germ cell deficient)
Fertility Defects
Gonadal Tumors (ovarian)

Research Tools
Immunology and Inflammation Research (Mast Cell Deficiency)

Sensorineural Research
Vestibular and Hearing Defects

References

Selected Reference(s)

Arguello F; Furlanetto RW; Baggs RB; Graves BT; Harwell SE; Cohen HJ; Frantz CN. 1992. Incidence and distribution of experimental metastases in mutant mice with defective organ microenvironments (genotypes Sl/Sld and W/Wv). Cancer Res 52(8):2304-9. [PubMed: 1559233] [MGI Ref ID J:468]
Murphy ED. 1972. Hyperplastic and early neoplastic changes in the ovaries of mice after genic deletion of germ cells. J Natl Cancer Inst 48(5):1283-95. [PubMed: 4337905] [MGI Ref ID J:5274]
Nocka K; Tan JC; Chiu E; Chu TY; Ray P; Traktman P; Besmer P. 1990. Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W. EMBO J 9(6):1805-13. [PubMed: 1693331] [MGI Ref ID J:10528]
Reis MM; Tsai MC; Schlegel PN; Feliciano M; Raffaelli R; Rosenwaks Z; Palermo GD. 2000. Xenogeneic transplantation of human spermatogonia. Zygote 8(2):97-105. [PubMed: 10857580] [MGI Ref ID J:109890]
Shyu H; Hsu S; Hsieh-Li H; Li H. 2001. A novel member of the RBCC family, Trif, expressed specifically in the spermatids of mouse testis. Mech Dev 108(1-2):213-6. [PubMed: 11578878] [MGI Ref ID J:71914]

Additional References

Price and Supply Information

Strain Name:	*C57BL/6J-Kit^W-v/J*
Stock Number:	000049

Price Details

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Supply Details

Standard Supply	Level 4. Up to 10 mice. Larger quantities or custom orders arranged upon request. Expected delivery up to one to three months.
Supply Notes	Shipped at a specific age in weeks. Mice at a precise age in days, littermates and retired breeders are also available. Strains that must be genotyped are not available until five to seven weeks of age. 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.

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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Go to JAX^® Mice Query Form

000599	B6 x B6CBCa A^w-J/A-T(5;13)264Ca Kit^W-v/J
000194	B6.Cg-Lx Kit^W-v/J
000350	B6By.Cg-Kit^W-v Mitf^Mi-wh T/J
100410	WBB6F1/J-Kit^W/Kit^W-v/J

006564	B6(C)-Kit^W-41J Gusb^mps/BrkJ
000495	B6.C-H38^c/By-Kit^W-56J/J
000560	B6.C-H7^b/By Kit^W-50J/J
000122	B6.C3-Kit^W-44J/J
000991	B6.C58-Kit^W-57J/J
002283	B6.Cg-Kit^W-19H/EiJ
000133	B6.Cg-Kit^W-24J/J
000139	B6.Cg-Kit^W-25J/J
005051	B6.Cg-Kit^W-sh/HNihrJaeBsmJ
000164	B6.Cg-Kit^W/J
000171	B6.D2-Kit^W-45J/J
001563	B6.D2-Kit^W-73J/J
001177	B6.LP-Kit^W-49J/J
000627	C3H/HeJ-Kit^W-x/J
000847	C3Sn.B6-Kit^W-39J/J
000166	C57BL/6J-Kit^W-17J/J
000167	C57BL/6J-Kit^W-18J/J
000169	C57BL/6J-Kit^W-20J/J
000117	C57BL/6J-Kit^W-34J/J
000128	C57BL/6J-Kit^W-35J/J
000134	C57BL/6J-Kit^W-37J/J
000062	C57BL/6J-Kit^W-39J/J
000121	C57BL/6J-Kit^W-40J/J
000119	C57BL/6J-Kit^W-41J/J
000127	C57BL/6J-Kit^W-42J/J
000129	C57BL/6J-Kit^W-43J/J
000990	C57BL/6J-Kit^W-55J/J
001179	C57BL/6J-Kit^W-62J/J
000965	CBACa.C3-Kit^W-x/J
000092	FL/1Re-Kit^W/J
000993	NZB/BlNJ-Kit^W-59J/J
000692	WB/ReJ Kit^W/J
100410	WBB6F1/J-Kit^W/Kit^W-v/J

Strain Name:

C57BL/6J-KitW-v/J

Stock Number:

000049

Availability:

Level 4

General Terms and Conditions

Product Information

Strain Details

KitW-v/Kit+

KitW-v/KitW-v

KitW-v/KitW-v

KitW-v/KitW-v

Gene & Allele Details

Control Information

Colony Maintenance

Related Strains

Additional Web Information

Animal Health Reports

Research Applications

References

Price and Supply Information

Price Details

*NO Shipping Destination selected!

Supply Details

General Terms and Conditions

The Jackson Laboratory's Genotype Promise

C57BL/6J-Kit^W-v/J

Kit^W-v/Kit⁺

Kit^W-v/Kit^W-v

Kit^W-v/Kit^W-v

Kit^W-v/Kit^W-v