Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Mbd4/Ift122tm1Abc
Name:	intraflagellar transport 122; targeted mutation 1, Alfonso Bellacosa
MGI ID:	MGI:4888288
Synonyms:	delta1-3, Mbd4tm1Abc
Gene:	Ift122  Location: Chr6:115830431-115903660 bp, + strand  Genetic Position: Chr6, 53.72 cM
Alliance:	Mbd4/Ift122tm1Abc page

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

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intergenic deletion   Mutation details: A genomic fragment encompassing exons 1, 2, and 3 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Ift122 Mutation:	52 strains or lines available

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)