The entire coding region of mouse Asxl1 cDNA with a TAC to TGA change resulting in a stop codon mutation on the Y588 site with a FLAG tag is under the control of the Vav1 promoter. Y558X in the mouse corresponds to human Y591X which is the most frequent nonsense mutation type in patients with malignant myeloid diseases. Western blot analysis confirmed the expression of a truncated protein. Five lines were generated, I through V. The pound symbol (#) is used when no line is specified and/or lines are pooled. J:257690 reports pooled data from lines I and II. (J:257690)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
--
Insertion
--
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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