Heterozygous mice exhibit a visible hindlimb paralysis. A much more severe paralysis with digit abnormalities is observed in homozygous mice.
This spontaneous mutation arose in a NZBWF1 hybrid at The Jackson Laboratory. Genetic markers were used to determine that the mutation originated in the NZW/LacJ parental chromosome. Mice were crossed to a B6C3FeF1/J background and maintained as a heterozygote x heterozygote or F1 x heterozygote cross before being cryopreserved as sperm in 2006.
|Allele Name||deletion, Chr 2, Gregory A Cox 1|
|Allele Synonym(s)||Del1Cx; Irn; Ironside|
|Gene Symbol and Name||Del(2Hoxd8,Hoxd9-Hoxd13)1Cx, deletion, Chr 2, Cox 1|
|Strain of Origin||NZW/LacJ|
|Molecular Note||A large noncontiguous deletion of two neighboring regions (approximately 8 kb and 43 kb) left an approximately 2 kb region containing exon 1 of the Hoxd8 gene in the locus between the deleted regions. The end result is a functional deletion of Hox8d, d9, d10, d11, d12 and d13. The flanking genes, Evx2 and Hoxd4, remained intact.|