B6.Cg-Kitl^Sl-gb/MbeJ

Stock number: 008656
Research areas: Dermatology Research, Developmental Biology Research, Hematological Research, Reproductive Biology Research

Description

This spontaneous mutation in the Kit ligand, grizzle belly, is perinatally lethal in the homozygous state. Heterozygotes exhibit a mild anemia, a head spot and light belly. This strain may be useful for research in hematopoiesis, pigmentation and gametogenesis.

Detailed description

The 120 Kb deletion in the spontaneous mutation, grizzle belly, represents the smallest complete deletion among the Kit ligand (Steel) alleles. Mice homozygous for the mutation die just before or after birth. Mice that survive to postnatal day 1 display a substantial decrease in peripheral red blood cells (RBC) and a severe anemia. Heterozygotes exhibit a mild anemia, and some decrease in peripheral RBC. In the homozygous embryo there is an absence of primordial germ cells (PGCs) by E11.5; an intermediate number of PGCs are found in the heterozygote. Like the other mutations at the Steel locus, this allele causes abnormal pigmentation. Heterozygotes can be identified by a head spot and light belly. This strain may be useful for research in hematopoiesis, pigmentation and gametogenesis.

Development

The grizzle belly (Sl-gb) mutation arose spontaneously on a mixed stock background at the MRC Radiobiology Unit in 1960. The strain was transferred to Neal Copeland and Nancy Jenkins at NCI in the 1990s where it was backcrossed to C3H/HeJ for at least 10 generations. In 1997, mice from the colony were sent to the University of Georgia and crossed to C3H/HeNCr for many generations. Subsequently, the mutation was backcrossed to C57BL/6J for 10 generations and then maintained by sibling matings. Dr. Mary Bedell at the University of Georgia donated the strain to the Repository in 2008.

Allele

Symbol: Kitl^Sl-gb
Name: grizzle belly
MGI accession ID: MGI:1856165
Generation method: Spontaneous
Marker symbol: Kitl
Marker name: kit ligand
Chromosome: 10
Strain of origin: STOCK a/a Adamts20^bt Mitf^Mi-wh
Molecular note: Sequence analysis showed a proximal breakpoint ~60kb 5' of the Kitl coding region and distal breakpoint at position 5287 in the 3'UTR with ~ 120 kb deleted.