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Mbd4tm1Wed
Targeted Allele Detail
Nomenclature
Symbol: Mbd4tm1Wed
Name: methyl-CpG binding domain protein 4; targeted mutation 1, Winfried Edelmann
MGI ID: MGI:2447611
Synonyms: Mbd4-
Gene: Mbd4  Location: Chr6:115840697-115853371 bp, - strand  Genetic Position: Chr6, 53.72 cM
Microadenoma in Mbd4tm1Wed/Mbd4tm1Wed Apctm1Rak/Apc+ gastrointestinal tract

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:80319
Parent Cell Line:  WW6 (ES Cell)
Strain of Origin:  STOCK 129/Sv and C57BL/6J and SJL
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Generation of the Mbd4tm1Wed allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Mbd4 Mutation:  24 strains or lines available
References
Original:  J:80319 Wong E, et al., Mbd4 inactivation increases Cright-arrowT transition mutations and promotes gastrointestinal tumor formation. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14937-42
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/15/2020
MGI 6.15
The Jackson Laboratory