Overview

Also Known As:WB

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. The lack of germ cells in homozygous mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. Kit mice generally have a well-defined belly spot with sharp edges and a very variable amount of white in the dorsal coat.

Genetic overview

Genetic Background	Generation
	Contact Technical Support (2018-07-27 00:00:00)

Kit^W

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

Pde6b^rd1

Allele Type	Gene Symbol	Gene Name
Spontaneous	Pde6b	phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

View Genetics

Research Applications

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

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for the retinal degeneration allele Pde6b^rd1.

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. The lack of germ cells in homozygous mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone.

Development

Mice carrying the Kit^W mutation were sent from Dr. S. J. Holman and Dr. Salome Waelsch to Elizabeth Russell at The Jackson Laboratory in the late 1940?s. Female #168 was bred with male #169 to begin the generation of inbred lines segregating for Kit^W and the resulting inbred lines were selected for frequency and longevity of homozygotes. The lines were maintained by full sibling inbreeding and line WB separated from WC at generation F8. Prior to F25 homozygotes on the WB background showed an average lifespan of 10.6 days. Additionally, the mean age of first litter at that time, 75 days, was earlier than that of WC, which was 92 days of age (Russell and McFarland, 1966). In 1960 WB/Re reached generation F36, in 1965 F56, in 1975 F97, in 1986 F126, in 1992 F138, and in 2010 F191. Embryos were cryopreserved in 1987.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

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
Cheers C; McKenzie IF. 1978. Resistance and susceptibility of mice to bacterial infection: genetics of listeriosis. Infect Immun 19(3):755-62PubMed: 305895 MGI: J:5965
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
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
Reis MM; Tsai MC; Schlegel PN; Feliciano M; Raffaelli R; Rosenwaks Z; Palermo GD. 2000. Xenogeneic transplantation of human spermatogonia. Zygote 8(2):97-105PubMed: 10857580 MGI: J:109890
Russell ES; Lawson FA. 1959. Selection and inbreeding for longevity of a lethal type. J Hered 50:19-25MGI: J:2469
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):213-6PubMed: 11578878 MGI: J:71914

View All References

Genetics

Kit^W

Allele Symbol: Kit^W

Allele Name	dominant spotting
Allele Type	Spontaneous
Allele Synonym(s)	W
Gene Symbol and Name	Kit, KIT proto-oncogene receptor tyrosine kinase
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	5
General Note	This is an old mutant of the mouse fancy. Kit^W 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 G-to-A substitution at the first nucleotide at the 5' boundary of intron 10 following the transmembrane exon 10 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 bp was found in transcripts from brain or bone marrow cells. The mutation disrupts splice donotr site G-GT by changing it to G-AT point, 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 create a frame shift with a stop codon 12 bp downstream, 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.

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Allele Name	retinal degeneration 1
Allele Type	Spontaneous
Allele Synonym(s)	Pdeb^rd1; rd; rd1; rd-1; rodless retina
Gene Symbol and Name	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Gene Synonym(s)
Strain of Origin	various
Chromosome	5
General Note	The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.
Molecular Note	Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.

Disease/Phenotype

Disease Terms

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

macrocytic anemia

Research Areas By Phenotype

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

Genotype: Kit^W related

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

Genotype: Pde6b^rd1 related

Sensorineural Research
- Retinal Degeneration
Mouse/Human Gene Homologs
- retinitis pigmentosa, autosomal recessive

Sensorineural Research
- Retinal Degeneration
  - Pde6b^rd1

Mammalian Phenotype Terms by Genotype

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

Genotype: Kit^W/Kit^W
Not Specified

hematopoietic system phenotype

macrocytic anemia
- macrocytic anemia begins at 12 days gestation leading to death within the first week of birth

integument phenotype

absent coat pigmentation
- white coat color, vividly contrasts with normal black eye color

mortality/aging

postnatal lethality, complete penetrance
- death is within the first week of birth

pigmentation phenotype

abnormal eye pigmentation
- pigment is restricted to retina

absent coat pigmentation
- white coat color, vividly contrasts with normal black eye color

vision/eye phenotype

abnormal eye pigmentation
- pigment is restricted to retina

Genotype: Kit^W/Kit⁺
Not Specified

integument phenotype

variable body spotting
- Background Sensitivity - variable amounts of white spotting

irregular coat pigmentation
- pigmented areas of the coat may be interspersed with white hairs producing a roan appearance pigmented coat may be interspersed with white hairs creating a roan appearance pigmented areas are interspersed with white hairs producing a roan appearance
- pigmented coat may be interspersed with white hairs creating a roan appearance pigmented areas are interspersed with white hairs producing a roan appearance

abnormal coat/hair pigmentation

mammalian phenotype

hematopoietic system phenotype
- blood parameters are normal

reproductive system phenotype
- system is normal

pigmentation phenotype

irregular coat pigmentation
- pigmented coat may be interspersed with white hairs creating a roan appearance pigmented areas are interspersed with white hairs producing a roan appearance
- pigmented areas of the coat may be interspersed with white hairs producing a roan appearance pigmented coat may be interspersed with white hairs creating a roan appearance pigmented areas are interspersed with white hairs producing a roan appearance

variable body spotting
- Background Sensitivity - variable amounts of white spotting

abnormal coat/hair pigmentation

Genotype: Kit^W/Kit^W
B6.Cg-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

hematopoietic system phenotype

macrocytic anemia
- identified as early as embryonic day 16, the earliest timepoint assessed, and the severity is greatest in W/W homozygotes compared with homozygotes for the viable dominant spotting allele or compound heterozgyotes

mortality/aging

abnormal survival
- heterozygous intercrosses produce only 14.5% homozygotes instead of the 25% expected, one sixth of which are born dead or die perinatally and nearly all the remainder die by 3 days of age, without postnatal growth

perinatal lethality, incomplete penetrance

prenatal lethality

References

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
Cheers C; McKenzie IF. 1978. Resistance and susceptibility of mice to bacterial infection: genetics of listeriosis. Infect Immun 19(3):755-62PubMed: 305895 MGI: J:5965
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
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
Reis MM; Tsai MC; Schlegel PN; Feliciano M; Raffaelli R; Rosenwaks Z; Palermo GD. 2000. Xenogeneic transplantation of human spermatogonia. Zygote 8(2):97-105PubMed: 10857580 MGI: J:109890
Russell ES; Lawson FA. 1959. Selection and inbreeding for longevity of a lethal type. J Hered 50:19-25MGI: J:2469
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):213-6PubMed: 11578878 MGI: J:71914

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25PubMed: 11853768 MGI: J:75095
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
Lai YL; Li H; Chiang HS; Hsieh-Li HM. 2002. Expression of a novel TGIF subclass homeobox gene, Tex1, in the spermatids of mouse testis during spermatogenesis. Mech Dev 113(2):185-7PubMed: 11960710 MGI: J:76545
Ross AJ; Amy SP; Mahar PL; Lindsten T; Knudson CM; Thompson CB; Korsmeyer SJ; MacGregor GR. 2001. BCLW Mediates Survival of Postmitotic Sertoli Cells by Regulating BAX Activity. Dev Biol 239(2):295-308PubMed: 11784036 MGI: J:72582

Additional - Kit^W related

Additional - Pde6b^rd1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Kit
- Sanger sequencing:Kit-SEQ
- Genotyping resources and troubleshooting
Dietary Information
- LabDiet® 5K52 formulation (6% fat)
Breeding Considerations

This strain is a challenging breeder.

Wildtype mice from this colony frequently show small belly spots on an otherwise non-diluted black background. Attempts to breed away from this phenotype can reduce the incidence, but can not fully eliminate it.
- Additional Breeding and Husbandry Support
Mating System
- +/+ sibling x Heterozygote
- Heterozygote x +/+ sibling
Appearance
- diluted black with white belly spot, occasionally has white head blaze, tail has white tip, affected
  Related Genotype: a/a Kit^W/+
  
  non-diluted black, frequently have small belly spots, unaffected
  Related Genotype: a/a +/+
Citation
When using the WB mouse strain in a publication, please cite the originating article(s) and include JAX stock #000692 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

AX5 (Standard)

Pricing & Availability

Cryo Recovery

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Live Mouse

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Genotype

Price

weeks

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:WB

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

KitW

Allele Symbol: KitW

Pde6brd1

Allele Symbol: Pde6brd1

Disease Terms

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

Research Areas By Phenotype

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

Genotype: KitW related

Genotype: Pde6brd1 related

Mammalian Phenotype Terms by Genotype

Genotype: KitW/KitWNot Specified

hematopoietic system phenotype

integument phenotype

mortality/aging

pigmentation phenotype

vision/eye phenotype

Genotype: KitW/Kit+Not Specified

integument phenotype

mammalian phenotype

pigmentation phenotype

Genotype: KitW/KitWB6.Cg-Kit/J

growth/size/body region phenotype

hematopoietic system phenotype

mortality/aging

References

Additional References

Additional - KitW related

Additional - Pde6brd1 related

Genotyping Protocols

Dietary Information

Breeding Considerations

Mating System

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Kit^W

Allele Symbol: Kit^W

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Genotype: Kit^W related

Genotype: Pde6b^rd1 related

Genotype: Kit^W/Kit^W
Not Specified

Genotype: Kit^W/Kit⁺
Not Specified

Genotype: Kit^W/Kit^W
B6.Cg-Kit/J

Additional - Kit^W related

Additional - Pde6b^rd1 related