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Ercc2tm2Jmch
Targeted Allele Detail
Nomenclature
Symbol: Ercc2tm2Jmch
Name: excision repair cross-complementing rodent repair deficiency, complementation group 2; targeted mutation 2, James R Mitchell
MGI ID: MGI:3696121
Synonyms: XpdG602D, Xpd+XPCS
Gene: Ercc2  Location: Chr7:19382039-19395692 bp, + strand  Genetic Position: Chr7, 9.62 cM
Cutaneous phenotypes of Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh and Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:116054
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA G602D point mutation was inserted with a neo in the 3' UTR. The neo was not removed from this allele. RT-PCR detected about a 5-fold reduction in expression compared to the wild-type allele. (J:116054)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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:  5 strains or lines available
References
Original:  J:116054 Andressoo JO, et al., Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006 Oct;4(10):e322
All:  1 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
12/04/2018
MGI 6.13
The Jackson Laboratory