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| Nomenclature |
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Symbol:
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Ctsbtm1Jde
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Name:
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cathepsin B;
targeted mutation 1, Jan Deussing
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MGI ID: |
MGI:2182129 |
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Synonyms: |
Cat B-, CathB-, Ctsb-, CTSB- |
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Gene:
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Ctsb
Location:
Chr14:63122462-63145919 bp, + strand
Genetic Position: Chr14,
33.24 cM
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Cerebral and cerebellar atrophy in Ctsbtm1Jde/Ctsbtm1Jde Ctsltm1Cptr/Ctsltm1Cptr mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:47432
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
in combination with Ctsltm1Cptr, double homozygous mutant have some similarities but distinct phenotypic characteristics compared to the human syndrome: neuronal ceroid lipofuscinoses (NLCs)
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| References |
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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
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All: |
43 reference(s)
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Analysis Tools
