Mice homozygous for the spontaneous mutation smallie (slie) in the Ddr2 (discoidin domain receptor family, member 2) gene appear normal at birth but by weaning they exhibit dwarfism and minor craniofacial abnormalities. Homozygous females lack a corpora lutea by six weeks. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility.Read More +
Mice homozygous for this mutation appear normal at birth. By weaning, they exhibit a reduced body mass, gain weight slower and display minor craniofacial abnormalities such as protruding eyes and a shortened snout. Bone mineral content, but not density is reduced in homozygotes. Plasma glucose levels are significantly increased while blood urea nitrogen levels are decreased in homozygotes. By six weeks, it can be seen that homozygous females lack a corpora lutea. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility.
This recessive mutation arose spontaneously in the BKSChpLt(HRS)-Tg(Ins2-Cpe)1Lt Cpefat/LtJng colony in the laboratory of Dr. Jurgen Naggert, The Jackson Laboratory. Mice homozygous for the mutation are infertile, therefore, a heterozygous sibling was crossed to C57BLKS/J. The colony then was established by sibling mating. The mutations Tg(Ins2-Cpe)1Lt and Cpefat have been selectively bred out.
|Gene Symbol and Name||Ddr2, discoidin domain receptor family, member 2|
|Strain of Origin||BKSChpLt.Cg-Tg(Ins2-Cpe)1Lt Cpefat/LtJng|
|Molecular Note||The mutation is a deletion of approximately 150kb encompassing most of the Ddr2 gene, of which genomic PCR analysis failed to amplify exons 1-17; exon 18 of this gene and the final exon of the proximal gene, Hsd17b7, both were amplified.|
When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes are infertile.
When using the BKS(HRS)-Ddr2slie/JngJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #008172 in your Materials and Methods section.