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Mre11atm1Jpt
Targeted Allele Detail
Summary
Symbol: Mre11atm1Jpt
Name: MRE11A homolog A, double strand break repair nuclease; targeted mutation 1, John H J Petrini
MGI ID: MGI:3027036
Synonyms: Mre11ATLD1
Gene: Mre11a  Location: Chr9:14695971-14748421 bp, + strand  Genetic Position: Chr9, 4.33 cM
Alliance: Mre11atm1Jpt page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87088
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsAn A-to-T transversion point mutation was engineered at nucleotide 1894 of the coding sequence to recapitulate a nonsense mutation identified in human patients (codon 633). This mutation results in the truncation of 75 amino acids. (J:87088)
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)
Tumor Data
List all tumor models in MMHCdb carrying Mre11atm1Jpt
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 Mre11a Mutation:  49 strains or lines available
References
Original:  J:87088 Theunissen JW, et al., Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Mol Cell. 2003 Dec;12(6):1511-23
All:  14 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