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Smpd3fro
Chemically induced Allele Detail
Summary
Symbol: Smpd3fro
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: Smpd3fro page
Mutation
origin
Strain of Origin:  random-bred
Mutation
description
Allele Type:    Chemically induced (other)
Mutation:    Intragenic deletion
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 6 assay results
In Structures Affected by this Mutation: 28 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:  44 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:  21 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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory