Aanat^{rs216509331-A}
Spontaneous Allele Detail

Summary

• Symbol: Aanat^{rs216509331-A}
• Name: arylalkylamine N-acetyltransferase; rs216509331 SNP allele with the A variant
• MGI ID: MGI:2180134
• Synonyms: Aanat^C57BL/6J, NAT
• Gene: Aanat Location: Chr11:116482547-116489022 bp, + strand Genetic Position: Chr11, 81.43 cM, cytoband E2
• Alliance: Aanat^{rs216509331-A} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: Low levels of melatonin production in C57BL/6J mice have been correlated with a point mutation in the gene encoding arylalkylamine N-acetyltransferase. A G to A conversion within a cryptic splice site results in the preferential incorporation of a pseudo-exon, containing an in-frame stop codon as the second codon, into the transcript. In vitro analysis demonstrates that the resulting truncated protein, which lacks several conserved C-terminal motifs, has less than 1% enzyme activity when compared to control C3H/HeJ mice. (J:51516)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Aanat Mutation: 23 strains or lines available

Notes

The A variant of this SNP has also been identified in strain LG/J.

References

• Original: J:8150 Ebihara S, et al., Genetic control of melatonin synthesis in the pineal gland of the mouse. Science. 1986 Jan 31;231(4737):491-3
• All: 17 reference(s)