Enpp1^ttw-Ham
Spontaneous Allele Detail

Summary

• Symbol: Enpp1^ttw-Ham
• Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking Hamamatsu University School of Medicine
• MGI ID: MGI:6402836
• Gene: Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
• Alliance: Enpp1^ttw-Ham page

Mutation origin

• Strain of Origin: Jcl:ICR

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: This spontaneous G>T mutation in intron 2 at the exon 2-intron 2 boundary, which changes splice donor site G-GT to a non-functional G-TT sequence (c.259+1G>T), was found in Jcl:iCR closed colony mice. The mutation results in an alternative splicing event skipping exon 2, which leads to a frameshift and premature stop codon. (J:250073)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

16 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:250073 Takabayashi S, et al., A new Enpp1 allele, Enpp1(ttw-Ham), identified in an ICR closed colony. Exp Anim. 2014;63(2):193-204
• All: 1 reference(s)