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Mbd4/Ift122tm1Abc
Targeted Allele Detail
Summary
Symbol: Mbd4/Ift122tm1Abc
Name: methyl-CpG binding domain protein 4; targeted mutation 1, Alfonso Bellacosa
MGI ID: MGI:2684311
Synonyms: delta1-3, Mbd4tm1Abc
Gene: Mbd4  Location: Chr6:115817658-115830332 bp, - strand  Genetic Position: Chr6, 53.72 cM
Alliance: Mbd4/Ift122tm1Abc 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  32 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)

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
11/19/2024
MGI 6.24
The Jackson Laboratory