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Strain Name:

FL/1Re-KitW/J

Stock Number:

000092

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Genes & Alleles   Kit;   KitW;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationN82

Important Note
This strain is homozygous for f.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

KitW/Kit+

        Background Not Specified
  • pigmentation phenotype
  • abnormal coat color (MGI Ref ID J:12955)
    • irregular coat pigmentation (MGI Ref ID J:12955)
      • 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 (MGI Ref ID J:12955)
      • variable amounts of white spotting
  • hematopoietic system phenotype
  • *normal* hematopoietic system phenotype (MGI Ref ID J:14978)
    • blood parameters are normal
  • skin/coat/nails phenotype
  • abnormal coat color (MGI Ref ID J:12955)
    • irregular coat pigmentation (MGI Ref ID J:12955)
      • 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 (MGI Ref ID J:12955)
      • variable amounts of white spotting
  • reproductive system phenotype
  • *normal* reproductive system phenotype (MGI Ref ID J:14978)
    • system is normal

KitW/KitW

        Background Not Specified
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:12955)
    • death is within the first week of birth
  • hematopoietic system phenotype
  • macrocytic anemia (MGI Ref ID J:14978)
    • macrocytic anemia begins at 12 days gestation leading to death within the first week of birth
  • pigmentation phenotype
  • abnormal eye pigmentation (MGI Ref ID J:12955)
    • pigment is restricted to retina
  • absent coat pigmentation (MGI Ref ID J:12955)
    • white coat color, vividly contrasts with normal black eye color
  • skin/coat/nails phenotype
  • absent coat pigmentation (MGI Ref ID J:12955)
    • white coat color, vividly contrasts with normal black eye color
  • vision/eye phenotype
  • abnormal eye pigmentation (MGI Ref ID J:12955)
    • pigment is restricted to retina

Gene & Allele Details

Allele Symbol KitW
Allele Name dominant spotting
Common Name(s) W;
Strain of Originold 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. [MGI Ref ID J:91867]

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   KitW allele
000164   B6.Cg-KitW/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
View Strains carrying   KitW     (3 strains)

View Strains carrying other alleles of Kit     (34 strains)

Research Applications

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

KitW 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
Retinal Degeneration
Vestibular and Hearing Defects

References

Additional References

Price and Supply Information

Strain Name: FL/1Re-KitW/J
Stock Number: 000092

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

View JAX® Mice & Services Conditions of Use.

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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