Smpd3<fro> Chemically induced Allele Detail MGI Mouse (MGI:1856877)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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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