Enpp1^asj-2J
Spontaneous Allele Detail

Summary

• Symbol: Enpp1^asj-2J
• Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; ages with stiffened joints 2 Jackson
• MGI ID: MGI:5607149
• Gene: Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
• Alliance: Enpp1^asj-2J page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This alelle is a spontaneous deletion of 40,035 bp extending from intron 1, 2,376 bp upstream of exon 2, to the 3 prime untranslated region, 199 bp downstream of the stop codon in exon 25, with an insertion into this deletion site of a 74 bp fragment derived from the 3 prime UTR of this gene (J:215824)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Enpp1 Mutation: 11 strains or lines available

References

• Original: J:215824 Li Q, et al., Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. PLoS One. 2014;9(12):e113542
• All: 6 reference(s)