This spontaneous R1158W missense mutation in the third of the four TolB-like six-bladed beta-propeller domains of low density lipoprotein receptor-related protein 4 provides a valuable variant for correlating specific mutations in this domain of the protein with phenotypes of Cenani-Lenz syndactyly syndrome and sclerosteosis 2.Read More +
The malformed digits 3 Jackson mutation causes shortened or fused digits on all four feet, with some toes being both shortened and fused. Homozygotes are slightly smaller than normal littermates and although the teeth require trimming when the mutants are young, this need often goes away as the mice mature. Some homozygotes fail to breed, but homozygous females breed sufficiently to maintain the strain with homozygous x heterozygous breeder pairs. This non-conserved R1158W substitution falls within the third of the four TolB-like six-bladed beta-propeller domains and provides a model for Cenani-Lenz syndactyly syndrome or sclerosteosis 2.
The Lrp4mdig-3J allele arose spontaneously in the B6.129-Reg3gtm1.1Lvh/J strain at The Jackson Laboratory. Two cycles of backcross-intercross breeding were performed to remove the Reg3gtm1.1Lvh allele and sperm was then cryopresrved from Lrp4mdig-3J homozygous males at generation N2F2.
|Allele Name||malformed digits 3 Jackson|
|Allele Type||Spontaneous (Hypomorph)|
|Gene Symbol and Name||Lrp4, low density lipoprotein receptor-related protein 4|
|Strain of Origin||B6.129-Reg3gtm1.1Lvh/J|
|Molecular Note||A spontaneous C-to-T transition at chromosome 2 position 91,492,644 bp (GRCm38) changes amino acid 1158 from arginine to tryptophan (p.R1158W) in the third beta-propeller domain.|
Homozygotes may require tooth trimming, and this need may diminish with age. Some homozygotes are infertile while some homozygous females have bred adequately to maintain a colony.
When using the B6.Cg-Lrp4mdig-3J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #024062 in your Materials and Methods section.