Enpp1^m1Amgn
Chemically induced Allele Detail

Summary

• Symbol: Enpp1^m1Amgn
• Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; mutation 1, Amgen
• MGI ID: MGI:4939484
• Synonyms: Enpp1^C397S, line 4482, stiff joints
• Gene: Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
• Alliance: Enpp1^m1Amgn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A transversion in exon 12 that results in the amino acid substitution of serine for cysteine at position 397 (C397S). (J:168664)

Expression

In Structures Affected by this Mutation:

8 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 Enpp1 Mutation: 9 strains or lines available

References

• Original: J:168664 Babij P, et al., New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification. J Bone Miner Res. 2009 Sep;24(9):1552-64
• All: 1 reference(s)