Twf2^b2b2576Clo
Chemically induced Allele Detail

Summary

• Symbol: Twf2^b2b2576Clo
• Name: twinfilin actin binding protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 2576 Cecilia Lo
• MGI ID: MGI:5615000
• Gene: Twf2 Location: Chr9:106080307-106092586 bp, + strand Genetic Position: Chr9, 57.46 cM
• Alliance: Twf2^b2b2576Clo page

Mutant (E14.5) presents with hypoplastic thymus on the left and right thymus ageneis

Show the 8 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The molecular lesion is a C-to-A single point mutation at position 953 of the cDNA (c.C953A, NM_011876) that is predicted to cause an amino acid substitution at position 318 of the encoded protein (p.A318E). (J:175213)

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 Twf2 Mutation: 31 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Congenital heart defects with outflow tract anomalies, including persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular hypertrophy, ventricular noncompacion, aortic arch anomalies.

Noncardiovascular phenotype: Craniofacial defect including facial cleft, cleft palate, micrognathia, short snout, hypoplastic thymus and unilateral thymus agenesis

Phenotypic Similarity to Human Syndrome:
DiGeorge syndrome

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)