Smpd3^tm1Wst
Targeted Allele Detail

Summary

• Symbol: Smpd3^tm1Wst
• Name: sphingomyelin phosphodiesterase 3, neutral; targeted mutation 1, Wilhelm Stoffel
• MGI ID: MGI:3575405
• Synonyms: smpd3^-
• Gene: Smpd3 Location: Chr8:106979180-107064597 bp, - strand Genetic Position: Chr8, 53.12 cM, cytoband D2
• Alliance: Smpd3^tm1Wst page

Growth retardation and deformations of the Smpd3^tm1Wst/Smpd3^tm1Wst skeleton

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:97284
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 1 was interrupted by the insertion of a PGK-neo cassette. Exon 1 encodes the two putative transmembrane domains and part of the catalytic site of the protein. Northern blot of brains from mutants demonstrated the lack of wild-type transcript. Western blot of brain protein extract from mutants confirms absence of protein. (J:97284)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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 Smpd3 Mutation: 47 strains or lines available

References

• Original: J:97284 Stoffel W, et al., Neutral sphingomyelinase 2 (smpd3) in the control of postnatal growth and development. Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4554-9
• All: 5 reference(s)