Enpp1^ttw
Spontaneous Allele Detail

Summary

• Symbol: Enpp1^ttw
• Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking
• MGI ID: MGI:1857079
• Synonyms: Enpp1^ttw-Jic, Npps-, tiptoe walking, tiptoe walking Yoshimura, twy
• Gene: Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
• Alliance: Enpp1^ttw page

Mutation origin

• Strain of Origin: Jcl:ICR

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: The genetic lesion responsible for this allele is a single base pair change(G>T) that changes glycine codon 568 into a stop codon (p.Gly568Ter). This leads to a premature truncation of the protein product that lacks a calcium binding site and the cysteine residues used in disulfide bonding. (J:48527)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

12 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: 11 strains or lines available

References

• Original: J:37369 Hosoda Y, et al., A new breed of mouse showing multiple osteochondral lesions--twy mouse. Ryumachi. 1981;21 Suppl:157-64
• All: 24 reference(s)