Strain Name:

B6By.Cg-KitW-v MitfMi-wh T/J

Stock Number:

000350

Availability:

Cryopreserved - Ready for recovery

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 Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6By
Donor Strain KitW-v , mixed stock; MitfMi-wh DBA x C57BL; T , Dobrovolskaia-Zavadska
GenerationN30

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. KitW-v homozygotes resemble KitW 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 (MitfMi-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 (MitfMi-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 KitW-v mutation arose spontaneously at The Jackson Laboratory in strain C57BL/6J before 1937. The mutation MitfMi-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 MitfMi-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 KitW-v MitfMi-wh T linkage testing stock was constructed. The stock was sibling bred and subsequently backcrossed to C57BL/6By. In 1981 KitW-v/+ MitfMi-wh/+ T/+ males at N29F2 were bred with C57BL/6By females to generate embryos for cryopreservation.

Related Strains

Strains carrying   KitW-v allele
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
000194   B6.Cg-Lx KitW-v/J
000049   C57BL/6J-KitW-v/J
100410   WBB6F1/J-KitW/KitW-v/J
View Strains carrying   KitW-v     (4 strains)

View Strains carrying   MitfMi-wh     (7 strains)

View Strains carrying   T     (4 strains)

View Strains carrying other alleles of Kit     (33 strains)

Strains carrying other alleles of Mitf
003046   B6(FVB)-MitfMi-Mee/J
000158   B6.Cg-MitfMi-wh/MitfMi/J
000184   B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157   B6.Cg-MitfMi-wh/Mitfmi-sp/J
001573   B6C3Fe a/a-MitfMi/J
000956   B6CB-Mitfmi-rw/J
002611   C57BL/6J-Mitfmi-bws/J
002134   C57BL/6J-Mitfmi-vit/J
View Strains carrying other alleles of Mitf     (8 strains)

Strains carrying other alleles of T
004591   B6 x B6Ei.Cg-TWis/EiJ
000953   B6 x BALB/cBy-T4J/J
000567   B6.Cg-T2J +/+ Qkqk/J
001015   B6.Cg-T4Or/J
001054   B6.Cg-TOrl/EiJ
002282   BTBR T+ tf/J
001053   C3Sn.AK-Thp/EiJ
000545   C57BL/6J-T2J/J
001199   C57BL/6J-T5J/J
001814   STOCK Tc/J
View Strains carrying other alleles of T     (10 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Albinism, Ocular, with Sensorineural Deafness - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Piebald Trait; PBT - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Tietz Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Waardenburg Syndrome, Type IIA; WS2A - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
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.

KitW-v/Kit+

        involves: C57BL/6
  • pigmentation phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:2447)
    • variable amount of white spotting
    • slightly diluted coat color
  • skin/coat/nails phenotype
  • abnormal coat/hair pigmentation (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

KitW-v/Kit+

        involves: C57BL * C57BL/6
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:27513)
  • white spotting (MGI Ref ID J:27513)
  • immune system phenotype
  • decreased mast cell number (MGI Ref ID J:27513)
    • mice exhibit fewer mast cells in the skin than wild-type mice
  • hematopoietic system phenotype
  • decreased erythrocyte cell number (MGI Ref ID J:27513)
  • decreased mast cell number (MGI Ref ID J:27513)
    • mice exhibit fewer mast cells in the skin than wild-type mice
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:27513)
  • white spotting (MGI Ref ID J:27513)

KitW-v/KitW-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

KitW-v/KitW-v

        involves: C57BL/6
  • pigmentation phenotype
  • abnormal coat/hair pigmentation (MGI Ref ID J:2447)
    • white coat color
  • skin/coat/nails phenotype
  • abnormal coat/hair pigmentation (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)
  • homeostasis/metabolism phenotype
  • increased bleeding time (MGI Ref ID J:7327)
    • bleed time of 6.9 minutes on average after tail nick is longer than the 3.8 minutes in C57BL/6J controls

KitW-v/KitW-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

MitfMi-wh/Mitf+

        involves: C57BL/6 * DBA
  • pigmentation phenotype
  • abnormal skin pigmentation (MGI Ref ID J:13058)
    • reduced foot pigmentation
    • abnormal tail pigmentation (MGI Ref ID J:13058)
      • reduced tail pigmentation
  • diluted coat color (MGI Ref ID J:13058)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes
    • coat color darkens slightly with age
  • reduced eye pigmentation (MGI Ref ID J:13058)
    • eyes are a very dark ruby color
  • skin/coat/nails phenotype
  • abnormal skin pigmentation (MGI Ref ID J:13058)
    • reduced foot pigmentation
    • abnormal tail pigmentation (MGI Ref ID J:13058)
      • reduced tail pigmentation
  • diluted coat color (MGI Ref ID J:13058)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes
    • coat color darkens slightly with age
  • limbs/digits/tail phenotype
  • abnormal tail pigmentation (MGI Ref ID J:13058)
    • reduced tail pigmentation
  • vision/eye phenotype
  • reduced eye pigmentation (MGI Ref ID J:13058)
    • eyes are a very dark ruby color

MitfMi-wh/MitfMi-wh

        involves: C57BL/6 * DBA
  • pigmentation phenotype
  • absent coat pigmentation (MGI Ref ID J:13058)
    • coat color is indistinguishable from that of Tyrc homozygotes
  • ocular albinism (MGI Ref ID J:13058)
    • eyes are pink and pigmentless
  • vision/eye phenotype
  • microphthalmia (MGI Ref ID J:13058)
    • eye size appears reduced compared to f Tyrc homozygotes
  • ocular albinism (MGI Ref ID J:13058)
    • eyes are pink and pigmentless
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:13058)
    • reduced body size compared to f Tyrc homozygotes
  • reproductive system phenotype
  • decreased litter size (MGI Ref ID J:13058)
    • litter size is reduced in homozygous female to homozygous male crosses
  • skin/coat/nails phenotype
  • absent coat pigmentation (MGI Ref ID J:13058)
    • coat color is indistinguishable from that of Tyrc homozygotes

MitfMi-wh/MitfMi-wh

        B6.Cg-MitfMi-wh
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
    • pigment granules are absent at E11
    • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
    • 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
    • abnormal retinal pigmentation (MGI Ref ID J:5046)
      • pigment granules are absent from the pigment layer at E11
      • 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
  • vision/eye phenotype
  • abnormal eye development (MGI Ref ID J:5046)
    • 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 cup morphology (MGI Ref ID J:5046)
      • slightly reduced in size from E13 onwards
      • irregularly formed surrounding less than half of the spherical lens
    • abnormal optic stalk morphology (MGI Ref ID J:5046)
      • slight increase in diameter at E11
      • shorter and somewhat greater in diameter at E11.5 and E12
  • abnormal posterior eye segment morphology (MGI Ref ID J:5046)
    • the lens fills the space normally occupied by the vitreous body
    • abnormal choroid morphology (MGI Ref ID J:5046)
      • 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 retinal neuronal layer morphology (MGI Ref ID J:5046)
      • at birth, the layers are less clearly defined
    • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
      • pigment granules are absent at E11
      • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
      • 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
      • abnormal retinal pigmentation (MGI Ref ID J:5046)
        • pigment granules are absent from the pigment layer at E11
        • 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
  • microphthalmia (MGI Ref ID J:5046)
    • slightly smaller at birth
  • skeleton phenotype
  • *normal* skeleton phenotype (MGI Ref ID J:5046)
    • unlike MitfMi homozygotes no skeletal abnormalities are seen
  • homeostasis/metabolism phenotype
  • decreased bleeding time (MGI Ref ID J:7327)
    • bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls

T/T

        Background Not Specified
  • lethality-prenatal/perinatal
  • embryonic lethality during organogenesis (MGI Ref ID J:13018)
    • die around E11
  • embryogenesis phenotype
  • abnormal limb bud morphology (MGI Ref ID J:11933)
    • posterior limb buds are absent as the posterior region of the body does not develop
    • anterior limb buds are directed dorsad rather than ventrad
  • abnormal neural tube morphology/development (MGI Ref ID J:11933)
    • 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
    • exhibit asymmetry of the neural tube in the mid-region at around E9
    • neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube
    • in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity
    • few cases show fusion between the neural tube and the gut in the posterior region
    • 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
    • kinked neural tube (MGI Ref ID J:59271)
  • abnormal placenta development (MGI Ref ID J:11933)
    • results in embryonic death at at E10.75
  • abnormal primitive streak formation (MGI Ref ID J:11933)
    • backward growth does not occur preventing organization of the posterior axis and emergence of the allantoic placental stalk
  • abnormal somite development (MGI Ref ID J:11933)
    • somites appear normal at early stages but at later stages, they are reduced and by E10, somite tissue is almost absent
  • absent notochord (MGI Ref ID J:13018)
    • notochord is absent, except for fragments in early stages
  • caudal body truncation (MGI Ref ID J:13018)
    • posterior region of the body is greatly reduced at E10
  • decreased embryo size (MGI Ref ID J:13018)
    • structures posterior to the forelimb buds are not formed
  • notochord degeneration (MGI Ref ID J:11933)
  • growth/size phenotype
  • decreased embryo size (MGI Ref ID J:13018)
    • structures posterior to the forelimb buds are not formed
  • cardiovascular system phenotype
  • abnormal aorta morphology (MGI Ref ID J:13018)
    • one of the two dorsal arotae is obliterated by a diverticulum from the neural tube
  • abnormal heart development (MGI Ref ID J:13018)
    • heart development is sometimes retarded
  • abnormal pericardium morphology (MGI Ref ID J:13018)
    • commonly, the pericardial cavity is enlarged and is often filled with blood at E10
  • hemorrhage (MGI Ref ID J:13018)
    • E10 homozygotes contain numerous blood-filled sinuses in the posterior end
    • pericardial cavity is often filled with blood at E10
  • craniofacial phenotype
  • abnormal head morphology (MGI Ref ID J:13018)
    • in a few cases, the head region, particularly the mouth, is malformed
  • limbs/digits/tail phenotype
  • abnormal limb bud morphology (MGI Ref ID J:11933)
    • posterior limb buds are absent as the posterior region of the body does not develop
    • anterior limb buds are directed dorsad rather than ventrad
  • short tail (MGI Ref ID J:13018)
  • nervous system phenotype
  • abnormal nervous system development (MGI Ref ID J:13018)
    • no regular segmental dorsal ganglia are formed in E10 embryos although ganglion tissue is found
    • abnormal neural tube morphology/development (MGI Ref ID J:11933)
      • 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
      • exhibit asymmetry of the neural tube in the mid-region at around E9
      • neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube
      • in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity
      • few cases show fusion between the neural tube and the gut in the posterior region
      • 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
      • kinked neural tube (MGI Ref ID J:59271)
  • skin/coat/nails phenotype
  • abnormal epidermal layer morphology (MGI Ref ID J:13018)
    • 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 (MGI Ref ID J:13018)
    • embryos exhibit small paired or unpaired blebs or small vesicles on either side of the mid-line at E8.5-9

T/T

        involves: BTBR
  • cardiovascular system phenotype
  • abnormal heart tube morphology (MGI Ref ID J:52218)
    • 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
  • abnormal looping morphogenesis (MGI Ref ID J:52218)
    • exhibit ventrally displaced ventricular loops and a 50% incidence of inverted heart situs

T/T+

        Background Not Specified
  • limbs/digits/tail phenotype
  • abnormal tail development (MGI Ref ID J:15081)
    • the size of the ventral ectodermal ridge of the tail (VER) is reduced to 74% of normal size
  • decreased caudal vertebrae number (MGI Ref ID J:15081)
    • caudal vertebrae numbers range from 10 to 24, with an average of 21
  • short tail (MGI Ref ID J:15081)
    • tail is reduced by about 1/3 in most mutants
    • seen by E11
  • embryogenesis phenotype
  • abnormal neural tube morphology/development (MGI Ref ID J:13018)
    • neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal
  • abnormal notochord morphology (MGI Ref ID J:13018)
    • 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
    • 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
  • skeleton phenotype
  • decreased caudal vertebrae number (MGI Ref ID J:15081)
    • caudal vertebrae numbers range from 10 to 24, with an average of 21
  • decreased presacral vertebrae number (MGI Ref ID J:15081)
  • nervous system phenotype
  • abnormal neural tube morphology/development (MGI Ref ID J:13018)
    • neural tube is abnormal/misshapen in the ventral part and in cases in which the notochord is abnormal
View Research Applications

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

KitW-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

MitfMi-wh related

Dermatology Research
Color and White Spotting Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects

Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Eye Defects
Vestibular and Hearing Defects

T related

Developmental Biology Research
Skeletal Defects

Genes & Alleles

Gene & Allele Information

 
Allele Symbol KitW-v
Allele Name viable dominant spotting
Allele Type Spontaneous
Common Name(s) KitWv; Wv; Wv;
Strain of OriginC57BL
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]
 
Allele Symbol MitfMi-wh
Allele Name white
Allele Type Spontaneous
Common Name(s) Miwh;
Strain of Origin(C57BL x DBA)F1
Gene Symbol and Name Mitf, microphthalmia-associated transcription factor
Chromosome 6
Gene Common Name(s) MI; WS2A; bHLHe32; black eyed white; bw; mi; microphthalmia; vit; vitiligo; wh;
General Note Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-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. [MGI Ref ID J:19656] [MGI Ref ID J:21366]
 
Allele Symbol T
Allele Name brachyury
Allele Type Spontaneous
Common Name(s) T1;
Strain of OriginLaboratory stock
Gene Symbol and Name T, brachyury
Chromosome 17
Gene Common Name(s) Bra; Low; Lr; MGC104817; T1; TFT; Tl2; Tl3; brachyury-like 2; brachyury-like 3; cou; coupe; low ratio; me75;
Molecular Note Pulsed-field gel electrophoresis revealed an altered restriction fragment size consistent with a deletion of 160-200kb. [MGI Ref ID J:21263]

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

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Herrmann BG; Labeit S; Poustka A; King TR; Lehrach H. 1990. Cloning of the T gene required in mesoderm formation in the mouse [see comments] Nature 343(6259):617-22. [PubMed: 2154694]  [MGI Ref ID J:21263]

Kinder SJ; Tsang TE; Ang SL; Behringer RR; Tam PP. 2001. Defects of the body plan of mutant embryos lacking Lim1, Otx2 or Hnf3beta activity. Int J Dev Biol 45(1 Spec No):347-55. [PubMed: 11291865]  [MGI Ref ID J:74124]

King T; Beddington RS; Brown NA. 1998. The role of the brachyury gene in heart development and left-right specification in the mouse. Mech Dev 79(1-2):29-37. [PubMed: 10349618]  [MGI Ref ID J:52218]

Le Saux F; Besson MJ; Maurin Y. 2002. Abnormal postnatal ontogeny of the locus coeruleus in the epileptic mutant mouse quaking. Brain Res Dev Brain Res 136(2):197-205. [PubMed: 12101037]  [MGI Ref ID J:109168]

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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

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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).

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.


See Terms of Use tab for General Terms and Conditions


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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Fax: 1-207-288-6150
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Terms of Use


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General inquiries

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phone:207-288-6470
fax:207-288-6655

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"). "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.

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.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

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. 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 and PRODUCTS 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.


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