Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Enpp1tm1Gdg
Name:	ectonucleotide pyrophosphatase/phosphodiesterase 1; targeted mutation 1, J W Goding
MGI ID:	MGI:2385534
Synonyms:	Enpp1-, PC-1-
Gene:	Enpp1  Location: Chr10:24513812-24588057 bp, - strand  Genetic Position: Chr10, 12.26 cM
Alliance:	Enpp1tm1Gdg page

Germline Transmission:	Earliest citation of germline transmission: J:78590
Parent Cell Line:	W9.5/W95 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Exon 9 was disrupted by the insertion of a neomycin selection cassette. RT-PCR analysis of total renal RNA showed the presence of an elongated transcript in homozygous mice, putatively resulting from a cryptic splice site within the neo transgene. Immunohistochemical analysis of epididymal sections showed an absence of encoded protein in homozygous mutant mice. (J:78590)

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

In Structures Affected by this Mutation:

7 anatomical structure(s)

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:	9 strains or lines available

Original:	J:78590 Sali A, et al., Germline deletion of the nucleoside triphosphate pyrophosphohydrolase (NTPPPH) plasma cell membrane glycoprotein (PC-1) produces abnormal calcification of periarticular tissues, in Proceedings of the Second International Workshop on Ecto-ATPases and Related Ectonucleotidases. 1999:267-282.
All:	19 reference(s)