Mbd4^tm1Wed
Targeted Allele Detail

Summary

• Symbol: Mbd4^tm1Wed
• Name: methyl-CpG binding domain protein 4; targeted mutation 1, Winfried Edelmann
• MGI ID: MGI:2447611
• Synonyms: Mbd4^-
• Gene: Mbd4 Location: Chr6:115817658-115830332 bp, - strand Genetic Position: Chr6, 53.72 cM
• Alliance: Mbd4^tm1Wed page

Microadenoma in Mbd4^tm1Wed/Mbd4^tm1Wed Apc^tm1Rak/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 details: 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)

Generation of the Mbd4^tm1Wed allele

Tumor Data

List all tumor models in MMHCdb carrying Mbd4^tm1Wed

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: 30 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: 4 reference(s)