Enpp1<ttw> Spontaneous Allele Detail MGI Mouse (MGI:1857079)

Enpp1^ttw
Spontaneous Allele Detail

Summary

Symbol:	Enpp1^ttw
Name:	ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking
MGI ID:	MGI:1857079
Synonyms:	Enpp1^ttw-Jic, Npps-, tiptoe walking, tiptoe walking Yoshimura, twy
Gene:	Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
Alliance:	Enpp1^ttw page

Mutation
origin

Strain of Origin:

Jcl:ICR

Mutation
description

Allele Type:		Spontaneous (Null/knockout)
Mutation:		Nucleotide substitutions
		Mutation details: The genetic lesion responsible for this allele is a single base pair change(G>T) that changes glycine codon 568 into a stop codon (p.Gly568Ter). 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:37369 Hosoda Y, et al., A new breed of mouse showing multiple osteochondral lesions--twy mouse. Ryumachi. 1981;21 Suppl:157-64
All:	24 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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