A transition mutation (G to A) in the splice donor site of intron 10 resulted in an aberrant transcript lacking exon 10. Furthermore, codons 436 through 455 in the Mad homology 2 domain, were shifted out of frame. Analysis of protein levels showed reductions greater than 50% in heterozygous ES cells as well as in primary embryonic fibroblasts, indicating a dominant negative property. No truncated protein was detected in primary embryonic fibroblasts. (J:80520)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/Sv
Chemically induced
Single point
--
1
12
2

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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