Quick Guide to Nomenclature for Alleles and Mutations
A note on gene and allele assignments:
A new heritable phenotypic allele may be an allele of a known gene or an allele
of a previously unknown gene.
- if an allele of a known gene, an allele symbol and allele name will be assigned.
- if an allele of an unknown gene, a gene symbol and gene name will be assigned.
You discover a new spontaneous phenotypic allele that looks "shaker like," but with a somewhat milder phenotype.
- Case 1, above: Upon testing, it is determined to be an allele of the
It is assigned the allele symbol Myo15sh2m, where the "sh2m" designates
it as an allele, and the name "shaker 2 mild" becomes its allele name.
- Case 2, above: Upon testing, it is determined to be an allele of a new gene;
it is not allelic to other mutant alleles with similar phenotype. It is assigned a new gene symbol "shl" and named "shaker like." Once this gene is cloned or functionally identified, the shl designation will become an allele designation.
For instance, if the gene is determined to be Xyz, then this allele becomes Xyzshl.
Basic rules for naming alleles
For designating mutants that are alleles of new
genes (Case 2 above),
see Quick Guide to Nomenclature for Genes
For designating mutants that are alleles of known genes, the basic guidelines are:
- Allele designations begin with a letter and contain alphanumeric characters. Punctuation marks occur in certain cases where they convey meaning.
- Allele designations appear as superscripted short alphanumeric strings following the gene symbol of which they are an allele and serve as an acronym for the allele name.
- For allele designations for spontaneous and induced alleles of known genes...
- Allele designations begin with a lower case letter if the allele is a recessive
and begin with a capital letter otherwise.
is the allele symbol for the recessive vestigal tail allele of the
Wnt3a gene, while
is the allele symbol for the dominant mottled allele of the
- If an allele is part of an allelic series, a serial number and lab code are part of its designation.
Each laboratory has its own numbering series.
is the 4th albino allele in the series discovered at The Jackson Laboratory (J) for the
T39H is the 39th mutation of T
from Harwell (H). This particular T allele was discovered in Harwell's ENU mutagenesis program.
- Allele designations for transgenic and targeted alleles of known genes...
- Tg(YYY)#Zzz for transgenic alleles, where YYY is the inserted gene,
# is the serial number, and Zzz the lab code for the laboratory. Example:
VcanTg(Hoxa1)1Chm, the Tg(Hoxa1)1Chm allele of Vcan.
A construct containing the mouse homeobox a1
inserted by microinjection, the first reported by Corey H. Mjaatvedt (Chm).
This transgene was found before it was associated with any known gene. Later, it was identified as an
(chondroitin sulfate proteoglycan).
- tm#Zzz for targeted alleles by homologous recombination, where tm indicates targeted mutation,
# is the serial number, and
Zzz the lab code for the laboratory. Example:
where this is the 1st targeted mutation of
Egfr created by Terry Magnuson (Mag).
The Mouse Genomic Nomenclature Committee (MGNC) provides assistance in assigning nomenclature. Please contact us at firstname.lastname@example.org.