These mutant Rmrp (RNA component of mitochondrial RNAase P) mice, generated using CRISPR-Cas9 technology, carry a single nucleotide change (270G>T) corresponding to an allele identified in cartilage-hair hypoplasia (CHH) patients (262G>T). Expression levels of mutant Rmrp RNA in T cells are similar to those found in wildtype animals. Mice are born at expected Mendelian ratios and have no overt phenotype. 

Sorted naive CD4+ T cells have altered gene expression profiles when cultured under TH17-polarizing conditions (in the presence of IL6 and TGFB). T cells from homozygotes have lower pathogenic potential when administered to Rag2-deficient mice in an adoptive transfer model of colitis. Recipients of mutant cells experienced reduced colitis as determined by weight loss and histology.

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This CRISPR/Cas9-generated mutant of Rmrp (RNA component of mitochondrial RNAase P) carries a G270T point mutation corresponding to an allele identified in cartilage-hair hypoplasia (CHH) patients.

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