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Ercc2tm1Jhjh
Targeted Allele Detail
Nomenclature
Symbol: Ercc2tm1Jhjh
Name: excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 1, Jan H J Hoeijmakers
MGI ID: MGI:2183947
Synonyms: TTD-, XPD0
Gene: Ercc2  Location: Chr7:19382010-19395694 bp, + strand  Genetic Position: Chr7, 9.62 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:45017
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAll of exons 17 through 21 and a portion of exon 22 were replaced by a cassette containing neo and hprt transgenes. The insertion is upstream of sequence encoding the DNA helicase domains 4 through 6 and the putative DNA-binding domain. The potential excision of the cassette generates a frameshift mutation via the splicing of exons 16 and 23. The targeting vector was designed such that it would not interfere with the Klc3 locus on the antisense strand. (J:45017)
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: 9 anatomical structures
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 Ercc2 Mutation:  14 strains or lines available
References
Original:  J:45017 de Boer J, et al., Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 1998 Jan 1;58(1):89-94
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory