B6.D2-Kitl^Sl-d/J

Stock number: 000160
Product name: B6-steel Dickie
Research areas: Cancer Research, Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research, Research Tools, Sensorineural Research

Description

Mice homozygous for the spontaneous mutation kit ligand; steel Dickie (Kitl^Sl-d) are viable, black-eyed white, usually sterile in one or both sexes, and have severe macrocytic anemia. This phenotype is also seen in heterozygous combinations of Steel Dickie with other steel alleles such as Kitl^Sl/Kitl^Sl-d.

Detailed description

The multiple steel mutations (Kitl^Sl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, steel-Dickie homozygotes (Kitl^Sl-d/Kitl^Sl-d) and compounds of steel and steel Dickie (Kitl^Sl/Kitl^Sl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel Dickie and steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with advancing age.

Although homozygous Kitl^Sl-d/Kitl^Sl-d have been described as being viable, Dr. Jane Barker of The Jackson Laboratory has found that in her colony B6.D2-Kitl^Sl-d homozygotes die at birth or soon thereafter.

Development

The Steel Dickie mutation was first observed in a C57BL/6 x DBA/2 F1 hybrid sometime in 1959-1960 and has been maintained in this congenic strain by mating heterozygous carriers to C57BL/6J mice.

Allele

Symbol: Kitl^Sl-d
Name: steel Dickie
MGI accession ID: MGI:1856164
Generation method: Spontaneous
Attributes: Modified isoform(s)
Marker symbol: Kitl
Marker name: kit ligand
Chromosome: 10
Strain of origin: DBA/2J
Molecular note: A 4kb deletion in genomic DNA results in the absence of 241bp in the mRNA and the addition of 67bp of novel sequence, a 174bp net loss. The region that is deleted corresponds to 5 amino acids N-terminal to the transmembrane domain of the encoded protein, and results in termination of the open reading frame after an additional 3 amino acids. The resulting protein is a soluble truncated one, lacking both transmembrane and cytoplasmic domains. Northern analysis indicates that mRNA is transcribed at nearly wild-type levels in adult tissues.
General note:

Genbank ID for this allele: M64262