Ctsl^tm1.2Thre
Targeted Allele Detail

Summary

• Symbol: Ctsl^tm1.2Thre
• Name: cathepsin L; targeted mutation 1.1, Thomas Reinheckel
• MGI ID: MGI:5780970
• Synonyms: Ctsl^{KiTTCdeltaSTOP}, Ctsl^{TTCKideltaSTOP}
• Gene: Ctsl Location: Chr13:64509704-64518586 bp, - strand Genetic Position: Chr13, 33.26 cM
• Alliance: Ctsl^tm1.2Thre page

Periodical hair loss in Ctsl^tm1.2Thre/Ctsl^tm1.2Thre mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:216506
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Nucleotide substitutions Mutation details: Exon 2 was replaced with a modified exon 2 in which in which the conventional start codon M1 ATG was substituted by TTC. A floxed polyadenylation (STOP) sequence was inserted downstream of the modified exon 2. Flp-mediated recombination removed the FRT-flanked puromycin resistance cassette inserted into intron 2. Cre-mediated recombination removed the floxed polyadenylation sequence and allowed for expression from a transcription initiation site in exon 3. Western blot analysis confirmed the absence of protein expression in kidney, liver and heart lysates from homozygous mutant mice, although mRNA expression levels are comparable to those in wild-type controls as confirmed by RT-PCR. (J:216506)

Generation of the Ctsl^tm1.1Thre and Ctsl^tm1.2Thre alleles

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 Ctsl Mutation: 32 strains or lines available

References

• Original: J:216506 Tholen M, et al., Out-of-frame start codons prevent translation of truncated nucleo-cytosolic cathepsin L in vivo. Nat Commun. 2014;5:4931
• All: 2 reference(s)