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Wrnb2b3121.1Clo
Chemically induced Allele Detail
Summary
Symbol: Wrnb2b3121.1Clo
Name: Werner syndrome RecQ like helicase; Bench to Bassinet Program (B2B/CVDC) mutation 3121, subline 1 Cecilia Lo
MGI ID: MGI:5648002
Synonyms: ET
Gene: Wrn  Location: Chr8:33724412-33875555 bp, - strand  Genetic Position: Chr8, 20.3 cM, cytoband A4
Alliance: Wrnb2b3121.1Clo page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3121Clo. The molecular lesion is a G to A substitution at coding nucleotide position 3502 in exon 28 of the cDNA (c.3502G>A, NM_001122822). This changes the glycine residue to serine at position 1168 of the encoded protein (p.G1168S). (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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 Wrn Mutation:  94 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: outflow anomaly comprising of bicuspic aortic or pulmonary valves.

Noncardiovascular phenotype: cleft palate, hypoplastic thymus, enlarged adrenal gland

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
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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Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory