Mbd4/Ift122^tm1Abc
Targeted Allele Detail

Summary

• Symbol: Mbd4/Ift122^tm1Abc
• Name: methyl-CpG binding domain protein 4; targeted mutation 1, Alfonso Bellacosa
• MGI ID: MGI:2684311
• Synonyms: delta1-3, Mbd4^tm1Abc
• Gene: Mbd4 Location: Chr6:115817658-115830332 bp, - strand Genetic Position: Chr6, 53.72 cM
• Alliance: Mbd4/Ift122^tm1Abc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86981
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion
• Mutation details: A genomic fragment encompassing exons 1, 2, and 3 of Mbd4 and exon 1 of Ift122 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded the entire 5-methylcytosine binding domain and a portion of the catalytic domain. RT-PCR confirmed the absence of expression of both genes in homozygous MEFs. (J:86981, J:143544)

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mbd4 Mutation: 31 strains or lines available

Notes

ES cell line = R1 ((129X1/SvJ x 129S1/Sv)F1-Kitl⁺) or W9.5 (129S1/Sv-p⁺ Tyr⁺ Kitl⁺).

References

• Original: J:86981 Cortellino S, et al., The base excision repair enzyme MED1 mediates DNA damage response to antitumor drugs and is associated with mismatch repair system integrity. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):15071-6
• All: 2 reference(s)