Smpd3^fro
Chemically induced Allele Detail

Summary

• Symbol: Smpd3^fro
• Name: sphingomyelin phosphodiesterase 3, neutral; fragilitas ossium
• MGI ID: MGI:1856877
• Synonyms: fro
• Gene: Smpd3 Location: Chr8:106979180-107064597 bp, - strand Genetic Position: Chr8, 53.12 cM, cytoband D2
• Alliance: Smpd3^fro page

Mutation origin

• Strain of Origin: random-bred

Mutation description

• Allele Type: Chemically induced (other)
• Mutation: Intragenic deletion
• Mutation details: A 1,758 bp deletion encompasses part of intron 8 and most of exon 9. Deletion of the intron 8-exon 9 splice acceptor site leads to the transcription of the undeleted portion of intron 8. A stop codon in the undeleted portion of intron 8 results in the substitution of the last 33 amino acids of the full length allele with 13 amino acids translated from intron 8 sequence. A histidine residue is thus lost that is critical for catalytic activity. (J:100158)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	27 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Smpd3 Mutation: 47 strains or lines available

References

• Original: J:6711 Guenet JL, et al., Fragilitas ossium: a new autosomal recessive mutation in the mouse. J Hered. 1981 Nov-Dec;72(6):440-1
• All: 22 reference(s)