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.

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

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

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

abnormal eye pigmentation
- pigment is restricted to retina

vision/eye phenotype

abnormal eye pigmentation
- pigment is restricted to retina

Genotype: Kit^W/Kit⁺
Not Specified

integument phenotype

abnormal coat/hair pigmentation

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

mammalian phenotype

hematopoietic system phenotype
- blood parameters are normal

reproductive system phenotype
- system is normal

pigmentation phenotype

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

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

The following phenotype relates to a compound genotype created using this strain

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

prenatal lethality

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

References

Additional References

Takaki S; Morita H; Tezuka Y; Takatsu K. 2002. Enhanced hematopoiesis by hematopoietic progenitor cells lacking intracellular adaptor protein, Lnk. J Exp Med 195(2):151-60PubMed: 11805142 MGI: J:76219

Additional - Kit^W related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Kit
- Sanger sequencing:Kit-SEQ
- Genotyping resources and troubleshooting
Citation
When using the B6.Cg-Kit^W/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000164 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/Product	Description	Price
> >	Heterozygous or Wild-type for Kit<W>

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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.

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Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

KitW

Allele Symbol: KitW

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

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

Genotyping Protocols

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

Genotype: Kit^W 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