Overview

This congenic strain carries three mutant alleles (Kit^W-v Mitf^Mi-wh T) affecting pigmentation and various cellular or developmental defects.

Genetic overview

Genetic Background	Generation
000663 C57BL/6By

T

Allele Type	Gene Symbol	Gene Name
Spontaneous	T	brachyury, T-box transcription factor T

Mitf^Mi-wh

Allele Type	Gene Symbol	Gene Name
Spontaneous	Mitf	melanogenesis associated transcription factor

Allele Type	Gene Symbol	Gene Name
Spontaneous	Kit	KIT proto-oncogene receptor tyrosine kinase

Research Applications

Mouse/Human Gene Homologs
Developmental Biology Research
Dermatology Research
Endocrine Deficiency Research
Immunology, Inflammation and Autoimmunity Research
Neurobiology Research
Sensorineural Research
Cancer Research

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Details

Detailed 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. Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (Mitf^Mi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (Mitf^Mi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalities of both the cochlear and vestibular portions of the inner ear. Mice heterozygous for the brachyury spontaneous mutation (T) have tail defects and associated skeletal abnormalities.

Development

The Kit^W-v mutation arose spontaneously at The Jackson Laboratory in strain C57BL/6J before 1937. The mutation Mitf^Mi-wh arose spontaneously in offspring of a cross between strains DBA and C57BL at the University of Rochester about 1947. T was found by Dobrovolskaia-Zavadskaia in a laboratory stock about 1927. Both Mitf^Mi-wh and T were imported into The Jackson Laboratory from Dr. D. Falconer of Edinburgh in 1950. Both mutations were together in a dominant testing stock that had been outcrossed to CBA and C57. At The Jackson Laboratory they were maintained together by sibling matings. In 1958 a Kit^W-v Mitf^Mi-wh T linkage testing stock was constructed. The stock was sibling bred and subsequently backcrossed to C57BL/6By. In 1981 Kit^W-v/+ Mitf^Mi-wh/+ T/+ males at N29F2 were bred with C57BL/6By females to generate embryos for cryopreservation.

Genetics

T

Allele Symbol: T

Allele Name	brachyury
Allele Type	Spontaneous
Allele Synonym(s)	brachyury; T
Gene Symbol and Name	T, brachyury, T-box transcription factor T
Gene Synonym(s)	coupe; Bra; brachyury-like 2; brachyury-like 3; T1; Low; low ratio; Lr; Tl2; Tl3; cou; SAVA; TFT; Tbxt
Strain of Origin	Laboratory stock
Chromosome	17
Molecular Note	Pulsed-field gel electrophoresis revealed an altered restriction fragment size consistent with a deletion of 160-200kb.

Mitf^Mi-wh

Allele Symbol: Mitf^Mi-wh

Allele Name	white
Allele Type	Spontaneous
Allele Synonym(s)	white; Mitf^Mi-wh
Gene Symbol and Name	Mitf, melanogenesis associated transcription factor
Gene Synonym(s)	bHLHe32; BCC2; black eyed white; bw; Gsfbcc2; CMM8; Gsfbcc2; WS2; WS2A; MI; gsf bright coat colour 2; microphthalmia; mi; vit; wh; vitiligo; mi; COMMAD
Strain of Origin	(C57BL x DBA)F1
Chromosome	6
General Note	Combination heterozygotes of Mitf^Mi-wh/Mitf^Mi, Mitf^Mi-wh/Mitf^Mi-b, and Mitf^Mi-wh/Mitf^Mi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967, J:19656). Mitf^Mi-b/Mitf^Mi-wh agouti mice are light cream with white spots and ruby eyes (J:15061).
Molecular Note	T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein.

Kit^W-v

Allele Symbol: Kit^W-v

Allele Name	viable dominant spotting
Allele Type	Spontaneous
Allele Synonym(s)	viable dominant spotting; Kit^W-v
Gene Symbol and Name	Kit, KIT proto-oncogene receptor tyrosine kinase
Gene Synonym(s)	C-Kit; belly-spot; Dominant white spotting; dominant spotting; Gsfsco1; Gsfsco5; Gsfsow3; Gsfsco1; Gsfsco5; Gsfsow3; gsf spotted coat 5; Fdc; PBT; gsf spotted coat 1; Ssm; SCFR; SCO1; SCO5; SOW3; W; spotted sterile male; Steel Factor Receptor; belly-spot; Tr-kit; Bs; phenotype like Sl or W 3; CD117; c-KIT; MASTC
Strain of Origin	silvered black strain
Chromosome	5
Molecular Note	A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

macrocytic anemia

Research Areas By Genotype

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

Genotype: Mitf^Mi-wh related

Mouse/Human Gene Homologs
- Waardenburg syndrome, type IIA
Dermatology Research
- Color and White Spotting Defects
Endocrine Deficiency Research
- Bone/Bone Marrow Defects
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency Associated with Other Defects
Neurobiology Research
- Hearing Defects
Sensorineural Research
- Eye Defects
- Hearing Defects

Genotype: T related

Developmental Biology Research
- Skeletal Defects

Genotype: Kit^W-v related

Cancer Research
- Increased Tumor Incidence
  - Gonadal Tumors: ovarian
  - Gonadal Tumors
- Oncogenes
- Growth Factors/Receptors/Cytokines
Mouse/Human Gene Homologs
- piebaldism
- synpolydactyly
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - Mast Cell Deficiency
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - Mast Cell Deficiency
Neurobiology Research
- Receptor Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
  - germ cell deficient
- Fertility Defects
- Gonadal Tumors
  - ovarian
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
Endocrine Deficiency Research
- Bone/Bone Marrow Defects
- Gonad Defects
- Skin Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: T/T
Not Specified

cardiovascular system phenotype

abnormal dorsal aorta morphology
- one of the two dorsal arotae is obliterated by a diverticulum from the neural tube

abnormal pericardial cavity morphology
- commonly, the pericardial cavity is enlarged

delayed heart development
- heart development is sometimes retarded

hemopericardium
- pericardial cavity is often filled with blood at E10

hemorrhage
- E10 homozygotes contain numerous blood-filled sinuses in the posterior end

growth/size/body region phenotype

abnormal head shape
- in a few cases, the head region, particularly the mouth, is malformed

decreased embryo size
- structures posterior to the forelimb buds are not formed

homeostasis/metabolism phenotype

hemopericardium
- pericardial cavity is often filled with blood at E10

integument phenotype

abnormal epidermal layer morphology
- exhibit transient blistering of the dorsal epithelium, first seen at the time of the formation of the first few somites but is completely gone by the time the embryo has attained the second flexure

bleb
- embryos exhibit small paired or unpaired blebs or small vesicles on either side of the mid-line at E8.5-9

limbs/digits/tail phenotype

abnormal forelimb bud morphology
- anterior limb buds are directed dorsad rather than ventrad

abnormal limb bud morphology

absent hindlimb buds
- posterior limb buds are absent as the posterior region of the body does not develop

short tail

mortality/aging

embryonic lethality during organogenesis, complete penetrance
- die around E11

nervous system phenotype

abnormal nervous system development
- no regular segmental dorsal ganglia are formed in E10 embryos although ganglion tissue is found

abnormal neural tube morphology
- abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds
- exhibit asymmetry of the neural tube in the mid-region at around E9
- few cases show fusion between the neural tube and the gut in the posterior region
- in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity
- neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end
- neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube

kinked neural tube

craniofacial phenotype

abnormal head shape
- in a few cases, the head region, particularly the mouth, is malformed

embryo phenotype

abnormal forelimb bud morphology
- anterior limb buds are directed dorsad rather than ventrad

abnormal limb bud morphology

abnormal neural tube morphology
- abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds
- exhibit asymmetry of the neural tube in the mid-region at around E9
- few cases show fusion between the neural tube and the gut in the posterior region
- in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity
- neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end
- neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube

abnormal placenta development
- results in embryonic death at at E10.75

abnormal primitive streak formation
- backward growth does not occur preventing organization of the posterior axis and emergence of the allantoic placental stalk

abnormal somite development
- somites appear normal at early stages but at later stages, they are reduced and by E10, somite tissue is almost absent

absent hindlimb buds
- posterior limb buds are absent as the posterior region of the body does not develop

absent notochord
- notochord is absent, except for fragments in early stages

caudal body truncation
- posterior region of the body is greatly reduced at E10

decreased embryo size
- structures posterior to the forelimb buds are not formed

kinked neural tube

notochord degeneration

Genotype: Kit^W-v/Kit^W-v
Not Specified

cardiovascular system phenotype

abnormal stria vascularis vasculature morphology
- vascularity was reduced

integument phenotype

abnormal coat/hair pigmentation
- mice are white with contrasting but normal black eye color

abnormal ear pigmentation
- abnormal pigmentation in the inner ear such as unpigmented stria

nervous system phenotype

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

abnormal cochlear outer hair cell morphology
- outer hair cells in the organ of Corti were mostly missing or malformed

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

vestibular hair cell degeneration
- some hair cells in the macula were lost and many others became enlarged and spherical

craniofacial phenotype

abnormal ear pigmentation
- abnormal pigmentation in the inner ear such as unpigmented stria

pigmentation phenotype

abnormal coat/hair pigmentation
- mice are white with contrasting but normal black eye color

abnormal ear pigmentation
- abnormal pigmentation in the inner ear such as unpigmented stria

reproductive system phenotype

reduced fertility

growth/size/body region phenotype

abnormal ear pigmentation
- abnormal pigmentation in the inner ear such as unpigmented stria

hearing/vestibular/ear phenotype

abnormal cochlea morphology
- variable cochlea defects that increased in severity as mutants aged

abnormal cochlear outer hair cell morphology
- outer hair cells in the organ of Corti were mostly missing or malformed

abnormal ear pigmentation
- abnormal pigmentation in the inner ear such as unpigmented stria

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

abnormal otolith morphology
- increase in the amount of otoliths

abnormal stria vascularis morphology

abnormal stria vascularis vasculature morphology
- vascularity was reduced

abnormal tectorial membrane morphology
- the tectorial membrane grew thicker and was usually attached to Reissner's membrane by 300 days of age
- the tectorial membrane was distorted and no longer in contact with the organ of Corti

abnormal vestibular saccule morphology
- variable saccule defects that increased in severity as mutants aged

enlarged otoliths
- otolith granules were larger

thin stria vascularis
- thinner than normal

vestibular hair cell degeneration
- some hair cells in the macula were lost and many others became enlarged and spherical

Genotype: Kit^W-v/Kit^W-v
involves: C57BL/6

hematopoietic system phenotype

macrocytic anemia

homeostasis/metabolism phenotype

increased bleeding time
- bleed time of 6.9 minutes on average after tail nick is longer than the 3.8 minutes in C57BL/6J controls

Genotype: Kit^W-v/Kit⁺
involves: C57BL/6

hematopoietic system phenotype

macrocytic anemia
- slightly macrocytic

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
involves: C57BL * DBA

growth/size/body region phenotype

decreased body size
- reduced body size compared to f Tyr^c homozygotes

reproductive system phenotype

decreased litter size
- litter size is reduced in homozygous female to homozygous male crosses

reduced fertility

vision/eye phenotype

decreased eye pigmentation
- little or no pigment in the iris

microphthalmia
- eye size appears reduced compared to f Tyr^c homozygotes
- the eyes are only mildly reduced in size

ocular albinism
- eyes are pink and pigmentless

hearing/vestibular/ear phenotype

abnormal cochlea morphology
- no section of the cochlear duct was ever found to be normal

abnormal cochlear hair cell morphology

abnormal stria vascularis morphology
- abnormal in its entirety

abnormal vestibular saccule morphology
- the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

integument phenotype

absent coat pigmentation
- coat color is indistinguishable from that of Tyr^c homozygotes
- the coat is entirely lacking pigment

nervous system phenotype

abnormal cochlear hair cell morphology

pigmentation phenotype

absent coat pigmentation
- coat color is indistinguishable from that of Tyr^c homozygotes
- the coat is entirely lacking pigment

decreased eye pigmentation
- little or no pigment in the iris

ocular albinism
- eyes are pink and pigmentless

Genotype: Mitf^Mi-wh/Mitf⁺
involves: C57BL * DBA

integument phenotype

abnormal foot pigmentation
- reduced foot pigmentation

decreased tail pigmentation
- reduced tail pigmentation

diluted coat color
- coat color darkens slightly with age
- coat color is gray and somewhat lighter than that of Myo5a^d homozygotes

white spotting
- small spots may occur on the back, but spotting is not found on the head

vision/eye phenotype

abnormal iris pigmentation
- moderate dilution of the iris pigmentation

decreased eye pigmentation
- eyes are a very dark ruby color

limbs/digits/tail phenotype

decreased tail pigmentation
- reduced tail pigmentation

pigmentation phenotype

abnormal foot pigmentation
- reduced foot pigmentation

abnormal iris pigmentation
- moderate dilution of the iris pigmentation

decreased eye pigmentation
- eyes are a very dark ruby color

decreased tail pigmentation
- reduced tail pigmentation

diluted coat color
- coat color darkens slightly with age
- coat color is gray and somewhat lighter than that of Myo5a^d homozygotes

white spotting
- small spots may occur on the back, but spotting is not found on the head

Genotype: Kit^W-v/Kit^W-v
involves: CBA/Ca

cardiovascular system phenotype

abnormal stria vascularis vasculature morphology
- the capillary network is poorly developed

integument phenotype

abnormal ear pigmentation
- 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

pigmentation phenotype

abnormal ear pigmentation
- 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
- no melanocytes detected in dorsal skin or in hair follicles

abnormal melanosome morphology
- 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
- 89% lack melanocytes within the stria vascularis
- no pigment is present

craniofacial phenotype

abnormal ear pigmentation
- 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

growth/size/body region phenotype

abnormal ear pigmentation
- 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

hearing/vestibular/ear phenotype

abnormal ear pigmentation
- 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 morphology

abnormal stria vascularis vasculature morphology
- the capillary network is poorly developed

abnormal strial basal cell morphology
- basal cells have no cytoplasmic projections
- basal cells of the stria vascularis do not contain premelanosomes or melanosomes

abnormal strial marginal cell morphology
- marginal cells have poorly developed basolateral projections

absent endocochlear potential
- 89% of homozygous mutants lack an endocochlear potential

absent strial intermediate cells
- 89% lack melanocytes within the stria vascularis
- no pigment is present

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

Genotype: T/T⁺
Not Specified

embryo phenotype

abnormal neural tube morphology
- neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal

abnormal notochord morphology
- commonly see branching of the notochord proper; at E10-12.5, branches occur mainly in the region of the cloaca and the proximal parts of the tail
- contain a notochord, however it can be retained in the roof of the gut or cloaca for varying distances and for a limited period, it may be slow to separate from the overlying neural plate or neural tube, or it may secondarily become incorporated completely into the neural tube or the tail-gut
- the notocord has a central lumen in places
- y into the neural tube or the tail-gut

decreased ventral ectodermal ridge size
- the size of the ventral ectodermal ridge of the tail (VER) is reduced to 74% of normal size

nervous system phenotype

abnormal neural tube morphology
- neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal

skeleton phenotype

decreased caudal vertebrae number
- caudal vertebrae numbers range from 10 to 24, with an average of 21

decreased presacral vertebrae number

limbs/digits/tail phenotype

decreased caudal vertebrae number
- caudal vertebrae numbers range from 10 to 24, with an average of 21

decreased ventral ectodermal ridge size
- the size of the ventral ectodermal ridge of the tail (VER) is reduced to 74% of normal size

short tail
- seen by E11
- tail is reduced by about 1/3 in most mutants

Genotype: T/T
involves: BTBR

cardiovascular system phenotype

abnormal heart looping
- exhibit ventrally displaced ventricular loops and a 50% incidence of inverted heart situs

abnormal heart tube morphology
- the early heart tube is bilaterally symmetrical, with a distinct grove on both left and right sides, forming a figure-of-eight outline at E8.5

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
B6.Cg-Mitf

homeostasis/metabolism phenotype

decreased bleeding time
- bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls

vision/eye phenotype

abnormal optic choroid morphology
- at birth the choroid fissure is irregularly closed in the anterior eye and open from the posterior part of the lens to the rear of the optic cup
- in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure

abnormal optic cup morphology
- irregularly formed surrounding less than half of the spherical lens
- slightly reduced in size from E13 onwards

abnormal optic fissure closure
- at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close
- in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure

abnormal optic stalk morphology
- shorter and somewhat greater in diameter at E11.5 and E12
- slight increase in diameter at E11

abnormal posterior eye segment morphology
- the lens fills the space normally occupied by the vitreous body

abnormal retinal neuronal layer morphology
- at birth, the layers are less clearly defined

abnormal retinal pigment epithelium morphology
- after E12 in some area the cells are columnar rather than cuboidal
- at all stages the number of mitoses is increased compared to control pigment layers
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
- pigment granules are absent at E11

abnormal retinal pigmentation
- after E12, a few pigment granules may be found in the front edge of the pigment layer
- at birth a few pigment granules are present near the iris
- pigment granules are absent from the pigment layer at E11

microphthalmia
- slightly smaller at birth

mammalian phenotype

skeleton phenotype
- unlike Mitf^Mi homozygotes no skeletal abnormalities are seen

pigmentation phenotype

abnormal retinal pigment epithelium morphology
- after E12 in some area the cells are columnar rather than cuboidal
- at all stages the number of mitoses is increased compared to control pigment layers
- at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
- pigment granules are absent at E11

abnormal retinal pigmentation
- after E12, a few pigment granules may be found in the front edge of the pigment layer
- at birth a few pigment granules are present near the iris
- pigment granules are absent from the pigment layer at E11

Genotype: Kit^W-v/Kit⁺
involves: C57BL * C57BL/6

hematopoietic system phenotype

decreased erythrocyte cell number

decreased mast cell number
- mice exhibit fewer mast cells in the skin than wild-type mice

immune system phenotype

decreased mast cell number
- mice exhibit fewer mast cells in the skin than wild-type mice

integument phenotype

diluted coat color

white spotting

pigmentation phenotype

diluted coat color

white spotting

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

growth/size/body region phenotype

decreased body weight
- weights are normal at embryonic day 16 but by birth the body weight is retarded behind that of wildtype siblings and by 14 days of age there is more than a gram difference in average total body weight and this growth impairment continues to keep these homozygotes smaller than wild-type littermates in the adult

hematopoietic system phenotype

macrocytic anemia
- identified as early as embryonic day 16, the earliest timepoint assessed, and the severity is milder than in W/W homozygotes or compound heterozgyotes

Genotype: Kit^W-v/Kit⁺
Not Specified

integument phenotype

abnormal coat/hair pigmentation

diluted coat color
- slightly diluted coat color

variable body spotting
- variable amounts of white spotting

mammalian phenotype

reproductive system phenotype
- Normal - fertile

pigmentation phenotype

abnormal coat/hair pigmentation

diluted coat color
- slightly diluted coat color

variable body spotting
- variable amounts of white spotting

Genotype: Kit^W-v/Kit⁺
involves: C57BL * DBA

hematopoietic system phenotype

macrocytic anemia
- mild macrocytic anemia

integument phenotype

belly spot
- a spot is always present on the belly

diluted coat color

head spot
- a head spot frequently but not always occurs

pigmentation phenotype

belly spot
- a spot is always present on the belly

diluted coat color

head spot
- a head spot frequently but not always occurs

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
involves: C57BL * C57BL/6J * DBA

integument phenotype

absent coat pigmentation
- white coat

mammalian phenotype

skeleton phenotype
- Normal - normal bone development and mice do not develop osteopetrosis

pigmentation phenotype

absent coat pigmentation
- white coat

decreased eye pigmentation
- eyes are slightly pigmented

vision/eye phenotype

decreased eye pigmentation
- eyes are slightly pigmented

microphthalmia

Genotype: Kit^W-v/Kit⁺
involves: C57BL

integument phenotype

diluted coat color
- slightly diluted coat color

variable body spotting
- variable amount of white spotting

mammalian phenotype

reproductive system phenotype
- Normal - fertile

pigmentation phenotype

diluted coat color
- slightly diluted coat color

variable body spotting
- variable amount of white spotting

References

Additional References

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):1805-13PubMed: 1693331 MGI: J:10528
Hodgkinson CA; Moore KJ; Nakayama A; Steingrimsson E; Copeland NG; Jenkins NA; Arnheiter H. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74(2):395-404PubMed: 8343963 MGI: J:13562
Tachibana M; Perez-Jurado LA; Nakayama A; Hodgkinson CA; Li X; Schneider M; Miki T; Fex J; Francke U; Arnheiter H. 1994. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 3(4):553-7PubMed: 8069297 MGI: J:17853
Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63PubMed: 7874168 MGI: J:21366
Motohashi H; Hozawa K; Oshima T; Takeuchi T; Takasaka T. 1994. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hear Res 80(1):10-20PubMed: 7852195 MGI: J:21682
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):2304-9PubMed: 1559233 MGI: J:468
Deol MS. 1967. The neural crest and the acoustic ganglion. J Embryol Exp Morphol 17(3):533-41PubMed: 6049665 MGI: J:5048
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):1283-95PubMed: 4337905 MGI: J:5274
Raisz LG; Simmons HA; Gworek SC; Eilon G. 1977. Studies on congenital osteopetrosis in microphthalmic mice using organ cultures: impairment of bone resorption in response to physiologic stimulators. J Exp Med 145(4):857-65PubMed: 870607 MGI: J:5804
Kitamura Y; Kasugai T; Ebi Y; Nomura S. 1991. Fibroblast-dependent differentiation/proliferation of mast cells. Skin Pharmacol 4 Suppl 1:2-7PubMed: 1764248 MGI: J:619

Additional - Kit^W-v related

Additional - Mitf^Mi-wh related

Additional - T related

Technical Support

Contact Technical Support

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the B6By.Cg-Kit^W-v Mitf^Mi-wh T/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000350 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or Wild-type for Mi<wh>,Heterozygous or Wild-type for W<v>,Heterozygous or Wild-type for T

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"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"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "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 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, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Genetic overview

Research Applications

Base Price

Detailed Description

Development

T

Allele Symbol: T

MitfMi-wh

Allele Symbol: MitfMi-wh

KitW-v

Allele Symbol: KitW-v

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Genotype

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

Genotype: MitfMi-wh related

Genotype: T related

Genotype: KitW-v related

Mammalian Phenotype Terms by Genotype

Genotype: T/TNot Specified

cardiovascular system phenotype

growth/size/body region phenotype

homeostasis/metabolism phenotype

integument phenotype

limbs/digits/tail phenotype

mortality/aging

nervous system phenotype

craniofacial phenotype

embryo phenotype

Genotype: KitW-v/KitW-vNot Specified

cardiovascular system phenotype

integument phenotype

nervous system phenotype

craniofacial phenotype

pigmentation phenotype

reproductive system phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

Genotype: KitW-v/KitW-vinvolves: C57BL/6

hematopoietic system phenotype

homeostasis/metabolism phenotype

Genotype: KitW-v/Kit+involves: C57BL/6

hematopoietic system phenotype

Genotype: MitfMi-wh/MitfMi-whinvolves: C57BL * DBA

growth/size/body region phenotype

reproductive system phenotype

vision/eye phenotype

hearing/vestibular/ear phenotype

integument phenotype

nervous system phenotype

pigmentation phenotype

Genotype: MitfMi-wh/Mitf+involves: C57BL * DBA

integument phenotype

vision/eye phenotype

limbs/digits/tail phenotype

pigmentation phenotype

Genotype: KitW-v/KitW-vinvolves: CBA/Ca

cardiovascular system phenotype

integument phenotype

pigmentation phenotype

craniofacial phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

Genotype: T/T+Not Specified

embryo phenotype

nervous system phenotype

skeleton phenotype

limbs/digits/tail phenotype

Genotype: T/Tinvolves: BTBR

cardiovascular system phenotype

Genotype: MitfMi-wh/MitfMi-whB6.Cg-Mitf

homeostasis/metabolism phenotype

vision/eye phenotype

mammalian phenotype

pigmentation phenotype

Genotype: KitW-v/Kit+involves: C57BL * C57BL/6

hematopoietic system phenotype

immune system phenotype

integument phenotype

Mitf^Mi-wh

Allele Symbol: Mitf^Mi-wh

Kit^W-v

Allele Symbol: Kit^W-v

Genotype: Mitf^Mi-wh related

Genotype: Kit^W-v related

Genotype: T/T
Not Specified

Genotype: Kit^W-v/Kit^W-v
Not Specified

Genotype: Kit^W-v/Kit^W-v
involves: C57BL/6

Genotype: Kit^W-v/Kit⁺
involves: C57BL/6

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
involves: C57BL * DBA

Genotype: Mitf^Mi-wh/Mitf⁺
involves: C57BL * DBA

Genotype: Kit^W-v/Kit^W-v
involves: CBA/Ca

Genotype: T/T⁺
Not Specified

Genotype: T/T
involves: BTBR

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
B6.Cg-Mitf

Genotype: Kit^W-v/Kit⁺
involves: C57BL * C57BL/6

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

Genotype: Kit^W-v/Kit⁺
Not Specified

Genotype: Kit^W-v/Kit⁺
involves: C57BL * DBA

Genotype: Mitf^Mi-wh/Mitf^Mi-wh
involves: C57BL * C57BL/6J * DBA

Genotype: Kit^W-v/Kit⁺
involves: C57BL

Additional - Kit^W-v related

Additional - Mitf^Mi-wh related