WBB6F1/J-Kit^W/Kit^W-v/J

Stock number: 100410
Product name: W/Wv
Research areas: Cancer Research, Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research, Research Tools, Sensorineural Research

Description

Stock No. 100410 is no longer available. Researchers can obtain each parental strain (listed below) and then breed them accordingly.

Stock No. 100410 was an F1 (first filial generation) strain developed and maintained by breeding the following parental strains together every generation: WB/ReJ Kit^W/J females (Stock No. 000692) and C57BL/6J-Kit^W-v/J males (Stock No. 000049).

The F1 mice with Kit^W/Kit^W-v compound heterozygous genotype (also called W/Wv) are mast cell deficient, and lack intermediate cells derived from melanoblasts in the stria vascularis resulting in endocochlear degeneration, loss of endocochlear potential, and hearing impairment.

Please note, if researchers breed these F1 W/Wv mice together they will create an F2 mouse, which may have a different phenotype than the F1 mice described.

Detailed 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. Kit^W-v homozygotes resemble Kit^W 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. Kit^W/Kit^W-v double heterozygotes are viable but sterile because of germ cell deficiency. They are also mast cell deficient. Kit^W/Kit^W-v double heterozygotes lack intermediate cells, derived from melanoblasts, in the stria vascularis resulting in endocochlear degeneration, loss of endocochlear potential, and hearing impairment.

Development

These F1 (first filial generation) hybrid mice are the offspring of a cross between WB/ReJ Kit^W/J (Stock No. 000692) females and C57BL/6J-Kit^W-v/J (Stock No. 000049) males.

Allele

Symbol: Kit^W
Name: dominant spotting
MGI accession ID: MGI:1856232
Generation method: Spontaneous
Synonyms: W
Marker symbol: Kit
Marker name: KIT proto-oncogene receptor tyrosine kinase
Marker synonyms: belly-spot; CD117; c-KIT; Dominant white spotting; Gsfsco1; Gsfsco5; Gsfsow3; MASTC; PBT; SCFR; SCO1; SCO5; SOW3; Steel Factor Receptor; Tr-kit
Chromosome: 5
Strain of origin: old mutant of the mouse fancy
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.
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).

Allele

Symbol: Kit^W-v
Name: viable dominant spotting
MGI accession ID: MGI:1856266
Generation method: Spontaneous
Synonyms: Kit^Wv; W^'; W²; W^v; Wv
Marker symbol: Kit
Marker name: KIT proto-oncogene receptor tyrosine kinase
Marker synonyms: belly-spot; CD117; c-KIT; Dominant white spotting; Gsfsco1; Gsfsco5; Gsfsow3; MASTC; PBT; SCFR; SCO1; SCO5; SOW3; Steel Factor Receptor; Tr-kit
Chromosome: 5
Strain of origin: silvered black strain
Molecular note: A C-to-T point mutation at coding nucleotide 1979 (transcript NM_021099) results in a threonine to methionine substitution at amino acid 660 (p.T660M).