Fuca1^tm1Tlub
Targeted Allele Detail

Summary

• Symbol: Fuca1^tm1Tlub
• Name: fucosidase, alpha-L- 1, tissue; targeted mutation 1, Torben Lubke
• MGI ID: MGI:6118143
• Gene: Fuca1 Location: Chr4:135648037-135667611 bp, + strand Genetic Position: Chr4, 68.01 cM, cytoband D3
• Alliance: Fuca1^tm1Tlub page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235359
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin-phosphotransferase I cassette was inserted in exon 1. Analysis of liver-derived and brain-derived lysosome-enriched fractions indicated total absence of alpha-L-fucosidase activity. (J:235359)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fuca1 Mutation: 34 strains or lines available

References

• Original: J:235359 Wolf H, et al., A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Dis Model Mech. 2016 Sep 1;9(9):1015-28
• All: 2 reference(s)