Sptlc1^em2Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sptlc1^em2Rwb
• Name: serine palmitoyltransferase, long chain base subunit 1; endonuclease-mediated mutation 2, Robert W Burgess
• MGI ID: MGI:7427573
• Synonyms: Sptlc1^C133W
• Gene: Sptlc1 Location: Chr13:53486784-53531433 bp, - strand Genetic Position: Chr13, 27.68 cM
• Alliance: Sptlc1^em2Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to create an cysteine to tryptophan substitution at position 133 (C133W, TGT to TGG) and a silent C to G mutation in codon 132 (T132T) in exon 5. The silent mutation eliminates the PAM site and prevents recutting with Cas9. (J:332542)

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 Sptlc1 Mutation: 26 strains or lines available

References

• Original: J:332542 Hines TJ, et al., Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. J Anat. 2022 Nov;241(5):1169-1185
• All: 1 reference(s)