Strain Name: |
WBB6F1/J-KitW/KitW-v/J |
|---|---|
Stock Number: |
100410 |
Availability: | Level 2 |
General Terms and Conditions |
| Former Name |
WBB6F1/J-KitW/KitW-v (Changed: 23-FEB-06
) |
| Genes & Alleles | Kit; KitW-v; KitW; Pde6b; Pde6brd1; |
Type *F1 Hybrid Additional information on Hybrid Strains. Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Appearance
black eyed, white coat, affected
Related Genotype: a/a KitW/KitW-v
black with white belly, spot occasionally has white head blaze, tail has white tip, affected
Related Genotype: a/a KitW/+
grey with light belly and white spot, light tail, affected
Related Genotype: a/a KitW-v/+
black, unaffected
Related Genotype: a/a +/+Important Note
This strain is heterozygous for the retinal degeneration allele Pde6brd1.Strain Description
Kit mutant 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. KitW/KitW-v double heterozygotes are viable but sterile because of germ cell deficiency. They are also mast cell deficient. KitW/KitW-v double heterozygotes lack intermediate cells, derived from melanoblasts, in the stria vascularis resulting in endocochlear degeneration, loss of endocochlear potential, and hearing impairment.
Mammalian Phenotype Terms assigned by genotype |
| Allele Symbol | KitW-v | ||
|---|---|---|---|
| Allele Name | viable dominant spotting | ||
| Common Name(s) | Wv; 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. [J:24351] | ||
| Allele Symbol | KitW | ||
| Allele Name | dominant spotting | ||
| Common Name(s) | W; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| 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; | ||
| General Note | This is an old mutant of the mouse fancy. KitW mutants are a potential model for human inherited pure red cell anemia, called Diamond-Blackfan anemia (OMIM 205900), but mouse mutants do not respond to corticosteroid treatment as do human patients. Thus, the mechanism of anemia causation in the two conditions must be different (J:14286). | ||
| Molecular Note | A guanosine to adenosine substitution at the first nucleotide at the 5' boundary of the intron following the transmembrane exon results in two different aberrantly spliced transcripts putatively expressed in a tissue specific manner. A deletion of 107 bp was found in transcripts from mast cells of mutant mice. A deletion of 234 was found in transcripts from brain or bone marrow cells. The GT to AT point mutation probably disrupted a splice donor site, thereby causing exon skipping. The 107 bp deletion could have resulted from skipping of a transmembrane region exon and the 234 bp deletion from skipping 3 exons. The 107 bp deletion would generate a stop codon 12 bp downstream because of a frame shift, whereas the larger deletion would still be in frame. Northern blot analysis indicated that mast cells from mutants have only 31-37% of the transcripts as mast cells derived from normal bone marrow, suggesting that the mutation may reduce efficiency and authenticity of transcription and splicing. [J:91867] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
| Control | ||
|---|---|---|
| +/+ from the colony | ||
| Considerations for Choosing Controls | ||
| Diet Information | LabDiet® 5K52/5K67 |
|---|
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 000350 B6By.Cg-KitW-v MitfMi-wh T/J 000049 C57BL/6J-KitW-v/J View Strains carrying KitW-v (4 strains)
Strains carrying KitW allele
000164 B6.Cg-KitW/J 000092 FL/1Re-KitW/J 000692 WB/ReJ KitW/J View Strains carrying KitW (3 strains)
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
Strains carrying other alleles of Kit
006564 B6(C)-KitW-41J Gusbmps/BrkJ 000495 B6.C-H38c/By-KitW-56J/J 000560 B6.C-H7b/By KitW-50J/J 000122 B6.C3-KitW-44J/J 000991 B6.C58-KitW-57J/J 002283 B6.Cg-KitW-19H/EiJ 000133 B6.Cg-KitW-24J/J 000139 B6.Cg-KitW-25J/J 005051 B6.Cg-KitW-sh/HNihrJaeBsmJ 000171 B6.D2-KitW-45J/J 001563 B6.D2-KitW-73J/J 001177 B6.LP-KitW-49J/J 000627 C3H/HeJ-KitW-x/J 000847 C3Sn.B6-KitW-39J/J 000166 C57BL/6J-KitW-17J/J 000167 C57BL/6J-KitW-18J/J 000169 C57BL/6J-KitW-20J/J 000117 C57BL/6J-KitW-34J/J 000128 C57BL/6J-KitW-35J/J 000134 C57BL/6J-KitW-37J/J 000062 C57BL/6J-KitW-39J/J 000121 C57BL/6J-KitW-40J/J 000119 C57BL/6J-KitW-41J/J 000127 C57BL/6J-KitW-42J/J 000129 C57BL/6J-KitW-43J/J 000990 C57BL/6J-KitW-55J/J 001179 C57BL/6J-KitW-62J/J 000965 CBACa.C3-KitW-x/J 000993 NZB/BlNJ-KitW-59J/J View Strains carrying other alleles of Kit (29 strains)
Strains carrying other alleles of Pde6b
004297 B6.CXB1-Pde6brd10/J 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J View Strains carrying other alleles of Pde6b (8 strains)
Genetic Quality Control Annual Report
JAX Notes, Winter 1991; 444. Coat Colors of Anemic Mice.
Room Number AX5
KitW-v relatedHematological Research
Anemia, Iron Deficiency and Transport Defects
Mast Cell Deficiency
Internal/Organ Research
Gastrointestinal Defects
KitW relatedCancer 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
Pde6brd1 relatedCancer 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
Retinal Degeneration
Vestibular and Hearing Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Selected Reference(s)
Additional ReferencesArguello 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] [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] [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] [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] [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] [J:71914]
| Strain Name: | WBB6F1/J-KitW/KitW-v/J |
| Stock Number: | 100410 |
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
| Standard Supply | Level 2. Up to 100 mice. Larger quantities or custom orders arranged upon request. |
|---|---|
| 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. |
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