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Targeted Allele Detail
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.

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
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
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
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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MGI 6.15
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