Cant1^tm1.1Aros
Targeted Allele Detail

Summary

• Symbol: Cant1^tm1.1Aros
• Name: calcium activated nucleotidase 1; targeted mutation 1.1, Antonio Rossi
• MGI ID: MGI:7264666
• Synonyms: Cant1^R302H
• Gene: Cant1 Location: Chr11:118297115-118309912 bp, - strand Genetic Position: Chr11, 83.15 cM
• Alliance: Cant1^tm1.1Aros page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:282272
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J x 129

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to A transition at position 905 (c.G905A) resulting in an arginine to histidine substitution at amino acid 302 (p.R302H) was introduced in exon 4. In addition, an FRT-flanked neomycin selection cassette and loxP site were inserted upstream of exon 3 and a second loxP site was inserted downstream of mutated exon 4. The selection cassette was removed via flp-mediated recombination leading to the generation of knock-in mice bearing the R302H missense mutation. This mutation is homologous to the p.R300H substitution in the active site of the human gene which has been detected in patients with Desbuquois dysplasia type 1. (J:282272)

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 Cant1 Mutation: 28 strains or lines available

References

• Original: J:282272 Paganini C, et al., Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification. Matrix Biol. 2019 Aug;81:70-90
• All: 1 reference(s)