Ctss^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ctss^m1Btlr
• Name: cathepsin S; mutation 1, Bruce Beutler
• MGI ID: MGI:6268420
• Synonyms: clip
• Gene: Ctss Location: Chr3:95434097-95463714 bp, + strand Genetic Position: Chr3, 40.74 cM
• Alliance: Ctss^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced C to T transition at base pair 95,545,384 (v38) on chromosome 3, or base pair 18,599 in the GenBank genomic region NC_000069 encoding Ctss. The mutation corresponds to residue 592 in the mRNA sequence NM_001267695 within exon 5 of 8 total exons and to residue 589 in the mRNA sequence NM_021281 within exon 5 of 8 total exons. The mutated nucleotide is indicated in red. The mutation results in substitution of glutamine 160 to a premature stop codon (Q160*) in variant 1 and Q159* in variant 2 of the CTSS protein. (J:267491)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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 Ctss Mutation: 32 strains or lines available

References

• Original: J:267491 Choi JH, et al., Mutagenetix entry for clip. MGI Direct Data Submission. 2018
• All: 1 reference(s)