The murine gene with a single point mutation of G to A in exon 12 that is confined to Asians and results in a substitution of glutamine 487 to lysine (E487K) is under the control of the human elongation factor-1 alpha. This mutation results in a dominant-negative effect. Three lines were established: DAL101, DAL102, and DAL103. DAL101 is the high expressing line. (J:137374)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
--
Single point
--
1
--
3

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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