B6.Cg-Kitl^Sl Krt71^Ca/J

Stock number: 000124
Research areas: Cancer Research, Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Neurobiology Research, Reproductive Biology Research, Research Tools, Sensorineural Research

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, compounds of two steel mutants (e.g. 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 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.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described.We will modify the strain description if necessary as published results become available.

Allele

Symbol: Krt71^Ca
Name: caracul
MGI accession ID: MGI:1855990
Generation method: Spontaneous
Marker symbol: Krt71
Marker name: keratin 71
Chromosome: 15
Strain of origin: Swiss stock
Molecular note: Sequence analysis identified the transversion of an C-to-A at coding nucleotide 1292, resulting in an alanine to aspartic acid missense mutation at codon 431 (p.A431D).

Allele

Symbol: Kitl^Sl
Name: steel
MGI accession ID: MGI:1856161
Generation method: Spontaneous
Marker symbol: Kitl
Marker name: kit ligand
Chromosome: 10
Strain of origin: C3H
Molecular note: By Southern blotting, it was concluded that this allele contains a deletion encompassing most, if not all, of the coding region of the gene. A probe corresponding to nucleotides 6 to 685 of the cDNA failed to hybridize to DNA obtained from embryos homozygous for this allele. PCR analysis with primers for sequences at various distances from the Kit gene narrowed the 5' and 3' deletion endpoints to a 350 and a 380 base-pair region, respectively. Sequencing of the product of PCR using primers designed to span the deletion revealed that it extends through 973,366 base pairs on Chromosome 10 between nucleotide positions 99,177,807 and 100,151,173 (NCBI Map Viewer, Build 36.1), with a 4-base pair insertion joining the deletion endpoints, and contains 6 predicted and 3 known genes.