Abstract
RMRP is a non-coding RNA that is ubiquitously expressed in both humans and mice. RMRP mutations that lead to decreased RMRP levels are found in the pleiotropic syndrome Cartilage Hair Hypoplasia. To assess the effects of deleting RMRP, we engineered a targeting vector that contains loxP sequences flanking RMRP and created hemizygous mice harboring this engineered allele (RMRP conditional). We found that insertion of this cassette suppressed RMRP expression, and we failed to obtain viable mice homozygous for the RMRP conditional allele. Furthermore, we were unable to obtain viable homozygous RMRP null mice, indicating that RMRP is essential for early embryonic development.
Highlights
RMRP is a non-coding RNA that is highly expressed in a wide range of human and murine tissues [1]
Mutations in RMRP have been detected in individuals afflicted with Cartilage Hair Hypoplasia (CHH) [2], a syndrome characterized by short stature, sparse hair, immunodeficiency and in a subset of patients severe combined immunodeficiency or life threatening anemia
Cellbased reporter assays have shown that RMRP mutations result in decreased RMRP stability, which may account for the severe phenotypes seen in CHH [3]
Summary
RMRP is a non-coding RNA that is highly expressed in a wide range of human and murine tissues [1]. We created a targeting vector specific for murine RMRP using the pEasyflox backbone [7]. The targeting vector contains the RMRP gene and promoter (800 bp up stream of murine RMRP [1]) flanked by two loxP sequences.
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