Tpp1^m1J
Chemically induced Allele Detail

Summary

• Symbol: Tpp1^m1J
• Name: tripeptidyl peptidase I; mutation 1, Jackson
• MGI ID: MGI:5512906
• Gene: Tpp1 Location: Chr7:105394018-105401442 bp, - strand Genetic Position: Chr7, 55.97 cM
• Alliance: Tpp1^m1J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A single T-to-C (A-to-G on forward strand) transition at position 105,748,881 (GRCm38) in chromosome 7 alters exon 8 splice donor site from G-GT to G-GC. (J:201119, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Tpp1 Mutation: 46 strains or lines available

References

• Original: J:201119 Karst SY, et al., A novel point mutation in Tpp1 provides a new model for late-infantile neuronal ceroid lipofuscinosis. MGI Direct Data Submission. 2013
• All: 2 reference(s)