About   Help   FAQ
Ctsltm1Cptr
Targeted Allele Detail
Summary
Symbol: Ctsltm1Cptr
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: Ctsltm1Cptr page
Cerebral and cerebellar atrophy in Ctsbtm1Jde/Ctsbtm1Jde Ctsltm1Cptr/Ctsltm1Cptr 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 detailsInsertion 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 22 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:  29 strains or lines available
Notes
In combination with Ctsbtm1Jde, 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:  74 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/09/2024
MGI 6.23
The Jackson Laboratory