Waardenburg syndrome 4C |
Wag31 |
rps6 |
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[Wads mouse]
The name of these mutant mice is an acronym from “white color, anemic, deaf, and sterile”. These mice carry the F856S in the kit gene in which a T-to-C transition results in a Phe-to-Ser substitution at amino acid 856 (F856S). Homozygous mutant mice present a loss-function of kit, and this mutation leads to mast cell deficiency. Neonatal mice also show some early developmental defects during germ cell differentiation in the testis and ovary (Ruan et al, 2005).
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