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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Ctsd^tm1Cptr/Ctsd^tm1Cptr	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd)

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
decreased food intake	√
ataxia	√
bradykinesia	√
seizures	√
tonic seizures	√
cellular	√
cellular phenotype	N
increased forebrain apoptosis	√
lysosomal protein accumulation	√
digestive/alimentary system	√
abnormal intestinal mucosa morphology	√
abnormal crypts of Lieberkuhn morphology	√
abnormal ileum morphology	√
endocrine/exocrine glands	√
abnormal crypts of Lieberkuhn morphology	√
thymus hypoplasia	√
growth/size/body	√
decreased body weight	√
hematopoietic system	√
thymus hypoplasia	√
decreased lymphocyte cell number	√
decreased double-positive T cell number	√
abnormal microglial cell morphology	√
abnormal spleen white pulp morphology	√
abnormal spleen B cell follicle morphology	√
homeostasis/metabolism	√
abnormal thrombosis	√
immune system	√
thymus hypoplasia	√
decreased lymphocyte cell number	√
decreased double-positive T cell number	√
abnormal microglial cell morphology	√
abnormal spleen white pulp morphology	√
abnormal spleen B cell follicle morphology	√
abnormal antigen presentation	√
mortality/aging	√
premature death	√
nervous system	√
seizures	√
tonic seizures	√
increased forebrain apoptosis	√
abnormal microglial cell morphology	√
retina photoreceptor degeneration	√
vision/eye	√
abnormal retina morphology	√
retina photoreceptor degeneration	√
blindness	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
neuronal ceroid lipofuscinosis 10 IDs neuronal ceroid lipofuscinosis 10       DOID:0110725 ICD10CM:E75.4 OMIM:610127 ORDO:228337 Close	√

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)