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Enpp1ttw
Spontaneous Allele Detail
Nomenclature
Symbol: Enpp1ttw
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking
MGI ID: MGI:1857079
Synonyms: Npps-, tiptoe walking, tiptoe walking Yoshimura, twy
Gene: Enpp1  Location: Chr10:24637914-24712159 bp, - strand  Genetic Position: Chr10, 12.26 cM
Mutation
origin
Strain of Origin:  Jcl:ICR
Mutation
description
Allele Type:    Spontaneous
Mutation:    Nucleotide substitutions
 
Mutation detailsThe genetic lesion responsible for this allele is a single base pair change that creates a nonsense mutation halfway through the coding region of Enpp1. 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
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: 12 anatomical structures
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:  4 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:  18 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory