Analysis of tissues from normal lambs and those with spider syndrome

Nakano, T.; Walker, Brian; Young, Bruce A.

doi:10.4141/cjas94-085

Cited by 1 publication

(2 citation statements)

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“…1989) and histological (Troyer et al. 1988; Nakano et al. 1994) analyses have revealed that SLS lambs typically possess irregular islands of ossification at the anconeal processes as well as abnormally large, disorganized zones of proliferating and hypertrophying chondrocytes in long bone and vertebral growth plates.…”

Section: Fibroblast Growth Factor Receptor 3 (Fgfr3) Genotypes Of Animentioning

confidence: 99%

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A single‐base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep

et al. 2006

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Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species.

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Section: Fibroblast Growth Factor Receptor 3 (Fgfr3) Genotypes Of Animentioning

confidence: 99%

“…These increased cell densities, often accompanied by an observable increase in mitotic activity, cause the chondrocytes to become highly disorganized and to lose their distinctive columnar structure (Troyer et al. 1988; Nakano et al. 1994).…”

Section: Fibroblast Growth Factor Receptor 3 (Fgfr3) Genotypes Of Animentioning

confidence: 99%