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Smpd3fro
Chemically induced Allele Detail
Nomenclature
Symbol: Smpd3fro
Name: sphingomyelin phosphodiesterase 3, neutral; fragilitas ossium
MGI ID: MGI:1856877
Synonyms: fro
Gene: Smpd3  Location: Chr8:106252548-106337988 bp, - strand  Genetic Position: Chr8, 53.12 cM, cytoband D2
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 for all genotypes (concatenated display).
Disease models
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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:  5 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Osteogenesis and Dentinogenesis Imperfecta (J:100158).

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:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory