Ctsl^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ctsl^m1Btlr
• Name: cathepsin L; mutation 1, Bruce Beutler
• MGI ID: MGI:6286325
• Synonyms: patch
• Gene: Ctsl Location: Chr13:64509704-64518586 bp, - strand Genetic Position: Chr13, 33.26 cM
• Alliance: Ctsl^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 A to T transversion at base pair 64,366,623 (v38) on chromosome 13, or base pair 4,126 in the GenBank genomic region NC_000079. The mutation corresponds to residue 936 in the mRNA sequence NM_009984 within exon 6 of 8 total exons. The mutation results in substitution of arginine (R) 214 for a premature stop codon (R214*) in the CTSL protein. (J:272869)
• Inheritance: Semidominant

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 Ctsl Mutation: 29 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3995

References

• Original: J:272869 Russell J, et al., Mutagenetix entry for patch. MGI Direct Data Submission. 2019
• All: 1 reference(s)