Ctsd^tm1Cptr
Targeted Allele Detail

Summary

• Symbol: Ctsd^tm1Cptr
• Name: cathepsin D; targeted mutation 1, Cristoph Peters
• MGI ID: MGI:2182078
• Synonyms: Cat D-, CD-, CDKO, CTSD-
• Gene: Ctsd Location: Chr7:141929647-141941564 bp, - strand Genetic Position: Chr7, 87.93 cM
• Alliance: Ctsd^tm1Cptr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:28201
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

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

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ctsd Mutation: 19 strains or lines available

References

• 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
• All: 40 reference(s)