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| Nomenclature |
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Symbol:
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Ctsdtm1Cptr
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Name:
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cathepsin D;
targeted mutation 1, Cristoph Peters
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MGI ID: |
MGI:2182078 |
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Synonyms: |
Cat D-, CD-, CDKO, CTSD- |
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Gene:
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Ctsd
Location:
Chr7:142371148-142388038 bp, - strand
Genetic Position: Chr7,
87.93 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:28201
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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: Exon 4 was disrupted by the insertion of a neomycin selection cassette, which altered the reading frame. One of the two active site aspartic acid residues and half of the proteinase region were downstream of the frameshift mutation. A lack of transcript in homozygous mutant mice was determined by Northern blot analysis of total kidney RNA. Western blot analysis of fibroblasts obtained from homozygous mutant embryos showed an absence of encoded protein. Proteinase activity was shown to be ablated in homozygous mutant mice by assaying hemoglobin degradation. (J:28201)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ctsd Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:28201
Saftig P et al.,
"Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells."
EMBO J 1995 Aug 1;14(15):3599-608
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All: |
21 reference(s)
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Analysis Tools
