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AanatC57BL/6J
Spontaneous Allele Detail
Nomenclature
Symbol: AanatC57BL/6J
Name: arylalkylamine N-acetyltransferase; C57BL/6 Jackson
MGI ID: MGI:2180134
Synonyms: NAT
Gene: Aanat  Location: Chr11:116591721-116597680 bp, + strand  Genetic Position: Chr11, 81.43 cM, cytoband E2
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsLow levels of melatonin production in C57BL/6J mice have been correlated with a point mutation in the gene encoding arylalkylamine N-acetyltransferase. A guanine to adenosine conversion within a cryptic splice site results in the preferential incorporation of a pseudo-exon, containing a stop codon, into intron 3. In vitro analysis demonstrates that the resulting fusion protein has less than 1% enzyme activity when compared to control C3H/HeJ mice. (J:51516)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  16 strains or lines available
Notes
Inbred strains C57BL/6J, BALB/c, AKR/J, NZB/BlNJ, IS/CamEi, and CAST/Ei are lack pineal melatonin.
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:  5 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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last database update
08/06/2019
MGI 6.14
The Jackson Laboratory