Otc^em1Bshep
Endonuclease-mediated Allele Detail

Summary

• Symbol: Otc^em1Bshep
• Name: ornithine transcarbamylase; endonuclease-mediated mutation 1, Ben Shepherd
• MGI ID: MGI:6384615
• Synonyms: Otc^R129H
• Gene: Otc Location: ChrX:10118584-10187275 bp, + strand Genetic Position: ChrX, 4.66 cM, cytoband A1
• Alliance: Otc^em1Bshep page

Mutation origin

• Strain of Origin: NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 129 altering arginine to histidine (R129H; CG to CA) in exon 4. This mutation was identified as a human early-onset ornithine transcarbamylase deficiency associated variant allele. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Otc Mutation: 24 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)