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Enpp1asj-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Enpp1asj-2J
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; ages with stiffened joints 2 Jackson
MGI ID: MGI:5607149
Gene: Enpp1  Location: Chr10:24637914-24712159 bp, - strand  Genetic Position: Chr10, 12.26 cM
Mutation
origin
Strain of Origin:  BALB/cJ
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  4 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory