Chsy3^em1Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chsy3^em1Btlr
• Name: chondroitin sulfate synthase 3; endonuclease-mediated mutation 3, Bruce Beutler
• MGI ID: MGI:6761417
• Synonyms: Chsy3^indel
• Gene: Chsy3 Location: Chr18:59308412-59544408 bp, + strand Genetic Position: Chr18, 33.93 cM
• Alliance: Chsy3^em1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Not Specified
• Mutation details: CRISPR-targeting produced a range of different deletion, insertion and delins mutations. This allele represents a 14 bp deletion (chr18:59542269_59542282delGTTCCTGACGGGGA (GRCm39)) resulting in a frameshift and premature stop codon (p.Phe470Alafs*25). (J:309727)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Chsy3 Mutation: 52 strains or lines available

References

• Original: J:309727 Rios JJ, et al., Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice. J Bone Miner Res. 2021 Aug;36(8):1548-1565
• All: 1 reference(s)