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Targeted Allele Detail
Symbol: Ctsdtm1Cptr
Name: cathepsin D; targeted mutation 1, Cristoph Peters
MGI ID: MGI:2182078
Synonyms: Cat D-, CD-, CDKO, CTSD-
Gene: Ctsd  Location: Chr7:142375916-142387870 bp, - strand  Genetic Position: Chr7, 87.93 cM
Germline Transmission:  Earliest citation of germline transmission: J:28201
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsExon 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
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:  8 strains or lines available
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:  29 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
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