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Fan1tm1.1Jrou
Targeted Allele Detail
Summary
Symbol: Fan1tm1.1Jrou
Name: FANCD2/FANCI-associated nuclease 1; targeted mutation 1.1 John Rouse
MGI ID: MGI:5897147
Synonyms: Fan1nd, Fan1 nuclease defective
Gene: Fan1  Location: Chr7:63996506-64023843 bp, - strand  Genetic Position: Chr7, 34.64 cM
Alliance: Fan1tm1.1Jrou page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:229449
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 13 of the gene was replaced with a mutated exon where the codon for Lys975 was mutated to encode an alanine. An FRT-flanked puromycin resistance cassette was inserted adjacent to the mutation. Flp-mediated recombination removed the puromycin cassette and left a single FRT site between exon 13 and 14. This allele produces a truncated protein lacking the last 41 amino acids that is devoid of nuclease activity. (J:229449)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 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 Fan1 Mutation:  99 strains or lines available
References
Original:  J:229449 Lachaud C, et al., Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. Science. 2016 Feb 19;351(6275):846-9
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
12/10/2024
MGI 6.24
The Jackson Laboratory