Enpp1<ttw-Ham> Spontaneous Allele Detail MGI Mouse (MGI:6402836)

Enpp1^ttw-Ham
Spontaneous Allele Detail

Summary

Symbol:	Enpp1^ttw-Ham
Name:	ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking Hamamatsu University School of Medicine
MGI ID:	MGI:6402836
Gene:	Enpp1 Location: Chr10:24513812-24588057 bp, - strand Genetic Position: Chr10, 12.26 cM
Alliance:	Enpp1^ttw-Ham page

Mutation
origin

Strain of Origin:

Jcl:ICR

Mutation
description

Allele Type:		Spontaneous (Null/knockout)
Mutation:		Single point mutation
		Mutation details: This spontaneous G>T mutation in intron 2 at the exon 2-intron 2 boundary, which changes splice donor site G-GT to a non-functional G-TT sequence (c.259+1G>T), was found in Jcl:iCR closed colony mice. The mutation results in an alternative splicing event skipping exon 2, which leads to a frameshift and premature stop codon. (J:250073)
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:250073 Takabayashi S, et al., A new Enpp1 allele, Enpp1(ttw-Ham), identified in an ICR closed colony. Exp Anim. 2014;63(2):193-204
All:	1 reference(s)

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