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.
Dr. Dan R. Littman, New York University Medical Center
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Endonuclease-mediated (Humanized sequence) | Rmrp | RNA component of mitochondrial RNAase P |
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.
C57BL/6 zygotes were injected with guide RNA (sgRNA_Rmrp_Locus: CACGGGGCTCATTCTCAGCG) and cas9 nuclease. The cleavage site was repaired by an endogenous oligo donor to create a G270T nucleotide replacement/knock-in. This strain was created and maintained on a C57BL/6NTac background by the donating investigator. Stocks will be cryorecovered/rederived using C57BL/6NJ mice.
Allele Name | endonuclease-mediated mutation 1, Dan R Littman |
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Allele Type | Endonuclease-mediated (Humanized sequence) |
Allele Synonym(s) | RmrpG270T |
Gene Symbol and Name | Rmrp, RNA component of mitochondrial RNAase P |
Gene Synonym(s) | |
Strain of Origin | C57BL/6NTac |
Chromosome | 4 |
Molecular Note | This allele was generated by injecting Cas9 RNA and guide RNA (sgRNA_Rmrp_Locus: CACGGGGCTCATTCTCAGCG), resulting in 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. |
Homozygotes and heterozygotes are viable and fertile.
When using the RmrpG270T mouse strain in a publication, please cite the originating article(s) and include JAX stock #028282 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wildtype for Rmrp<em1Litt> |
Frozen Mouse Embryo | C57BL/6-Rmrp<em1Litt>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6-Rmrp<em1Litt>/J | $2595.00 |
Frozen Mouse Embryo | C57BL/6-Rmrp<em1Litt>/J | $3373.50 |
Frozen Mouse Embryo | C57BL/6-Rmrp<em1Litt>/J | $3373.50 |
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