Ctsl^tm1Cptr
Targeted Allele Detail

Summary

• Symbol: Ctsl^tm1Cptr
• Name: cathepsin L; targeted mutation 1, Christoph Peters
• MGI ID: MGI:2136432
• Synonyms: catL-, Cat L^-, CL-, ctsl-, L^-
• Gene: Ctsl Location: Chr13:64509704-64518586 bp, - strand Genetic Position: Chr13, 33.26 cM
• Alliance: Ctsl^tm1Cptr page

Cerebral and cerebellar atrophy in Ctsb^tm1Jde/Ctsb^tm1Jde Ctsl^tm1Cptr/Ctsl^tm1Cptr mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70118
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin resistance cassette into exon 3. Northern and Western analysis failed to detect any signal in homozygous mutant mice. No Ctsl enzymatic activity was detected using a synthetic substrate. (J:70118, J:108004)

Disease models

Expression

In Structures Affected by this Mutation:

21 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ctsl Mutation: 32 strains or lines available

Notes

In combination with Ctsb^tm1Jde, double homozygous mutant have some similarities but distinct phenotypic characteristics compared to the human syndrome: Neuronal Ceroid Lipofuscinoses (NLCs)

References

• Original: J:70118 Roth W, et al., Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling. FASEB J. 2000 Oct;14(13):2075-86
• All: 75 reference(s)