Article
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.
Human molecular genetics - 15 Jan 2013
Geister Krista A, Brinkmeier Michelle L, Hsieh Minnie, Faust Susan M, Karolyi I Jill, Perosky Joseph E, Kozloff Kenneth M, Conti Marco, Camper Sally A
Abstract excerpt
We discovered a new spontaneous mutant allele of Npr2 named peewee (pwe) that exhibits severe disproportionate dwarfism and female infertility. The pwe phenotype is caused by a four base-pair deletion in exon 3 that generates a premature stop codon at codon 313 (L313X). The Npr2(pwe/pwe) mouse is...
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