The gene was disrupted by replacement of exon 3 and part of intron 3 with a PGK-neo cassette via homologous recombination. The targeted mutation results in deletion of the catalytic domain encoded by exon 3. RT-PCR analysis of RNA from homozygous mutant animals confirmed deletion of exon 3 and revealed a low level exon2-exon4 alternative splice product. The predicted product contains a frameshift mutation resulting in a nonfunctional 125 amino acid protein, of which 98 amino acids are Mbd4-derived. (J:80319)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK 129/Sv and C57BL/6J and SJL
Targeted
Insertion, Intragenic deletion
--
1
2
4

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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