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

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

Germline Transmission:	Earliest citation of germline transmission: J:87088
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Humanized sequence) Mutation:    Single point mutation   Mutation details: An 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)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

List all tumor models in MMHCdb carrying Mre11atm1Jpt

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:	48 strains or lines available

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)