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Mre11atm1Dof
Targeted Allele Detail
Summary
Symbol: Mre11atm1Dof
Name: MRE11A homolog A, double strand break repair nuclease; targeted mutation 1, David O Ferguson
MGI ID: MGI:3839938
Synonyms: Mre11H129N
Gene: Mre11a  Location: Chr9:14695971-14748421 bp, + strand  Genetic Position: Chr9, 4.33 cM
Alliance: Mre11atm1Dof page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:147247
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 5 was replaced with one in which a C to A substitution results in the amino acid substitution of histidine with asparagine at position 129 (p.H129N) in the encoded protein. This mutation occurs in nuclease motif III. A loxP site flanked neomycin resistance gene cassette was inserted into intron 5 and subsequently removed by transient cre expression in ES cells. (J:147247)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Mre11a Mutation:  48 strains or lines available
References
Original:  J:147247 Buis J, et al., Mre11 nuclease activity has essential roles in DNA repair and genomic stability distinct from ATM activation. Cell. 2008 Oct 3;135(1):85-96
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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory