Wrn^b2b3121.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Wrn^b2b3121.1Clo
• 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: Wrn^b2b3121.1Clo 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)

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)