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A GTTA sequence was inserted at position 2178 in exon 17 (c.2178_2179) to mimic the human mutation 2211insGTTA found in patients with mosaic variegated aneuploidy (MVA) syndrome. Cre-mediated recombination removed the neo cassette upstream of the modified exon 17. Western blot analysis confirmed reduced protein expression in mouse embryonic fibroblasts. (J:194926)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
