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Chemically induced Allele Detail
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
Strain of Origin:  random-bred
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
View phenotypes and curated references for all genotypes (concatenated display).
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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:  15 strains or lines available
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:  12 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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