Ctsb^tm1Jde
Targeted Allele Detail

Summary

• Symbol: Ctsb^tm1Jde
• 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
• Alliance: Ctsb^tm1Jde page

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

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47432
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A 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)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 42 strains or lines available

Notes

in combination with Ctsl^tm1Cptr, double homozygous mutant have some similarities but distinct phenotypic characteristics compared to the human syndrome: neuronal ceroid lipofuscinoses (NLCs)

References

• 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: 76 reference(s)