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| Nomenclature |
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Symbol:
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Enpp1ttw
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Name:
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ectonucleotide pyrophosphatase/phosphodiesterase 1;
tiptoe walking
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MGI ID: |
MGI:1857079 |
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Synonyms: |
Npps-, tiptoe walking, tiptoe walking Yoshimura, twy |
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Gene:
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Enpp1
Location:
Chr10:24637914-24712159 bp, - strand
Genetic Position: Chr10,
12.26 cM
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Mutation
origin |
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Strain of Origin:
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Jcl:ICR
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: The 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Enpp1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:37369
Hosoda Y et al.,
"A new breed of mouse showing multiple osteochondral lesions--twy mouse."
Ryumachi 1981;21 Suppl():157-64
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All: |
16 reference(s)
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Analysis Tools
