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Targeted Allele Detail
Symbol: Ctsbtm1Jde
Name: cathepsin B; targeted mutation 1, Jan Deussing
MGI ID: MGI:2182129
Synonyms: Cat B-, CathB-, Ctsb-, CTSB-
Gene: Ctsb  Location: Chr14:63359911-63383372 bp, + strand  Genetic Position: Chr14, 33.24 cM
Cerebral and cerebellar atrophy in Ctsbtm1Jde/Ctsbtm1Jde Ctsltm1Cptr/Ctsltm1Cptr mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:47432
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA neomycin selection cassette was inserted into a BglII site in exon 4. Northern blot analysis of total RNA showed a lack of transcript in homozygous mutant mice. An absence of protein in homozygous mutant mice was determined by Western blot analysis of kidney lysosomal protein extracts. The proteolytic activity of the endogenous protein was found to be absent using an assay involving liver lysosomal extracts obtained from of homozygous mutant mice and a fluorogenic substrate. (J:64872)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Ctsb Mutation:  27 strains or lines available
in combination with Ctsltm1Cptr, double homozygous mutant have some similarities but distinct phenotypic characteristics compared to the human syndrome: neuronal ceroid lipofuscinoses (NLCs)
Original:  J:47432 Deussing J, et al., Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4516-21
All:  68 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)
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MGI 6.17
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