Ctsd^m1J
Spontaneous Allele Detail

Summary

• Symbol: Ctsd^m1J
• Name: cathepsin D; mutation 1, Jackson
• MGI ID: MGI:5752221
• Gene: Ctsd Location: Chr7:141929647-141941564 bp, - strand Genetic Position: Chr7, 87.93 cM
• Alliance: Ctsd^m1J page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This spontaneous C-to-T transition (G-to-A on negative gene strand) at chromosome 7 position 142,385,619 bp (GRCm38) destroys the exon 2 splice acceptor site by changing it from CAG to CAA. (J:229377)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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:229377 Harris BS, et al., A spontaneous model for neuronal ceroid lipofuscinosis 10. MGI Direct Data Submission. 2016
• All: 1 reference(s)