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Allele : Smpd3<fro> sphingomyelin phosphodiesterase 3, neutral; fragilitas ossium

Primary Identifier  MGI:1856877 Allele Type  Chemically induced (other)
Gene  Smpd3 Inheritance Mode  Recessive
Strain of Origin  random-bred Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • fro,
  • fro
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

6 Carried By

0 Driven By

25 Publication categories