Fras1^b2b3323Clo
Chemically induced Allele Detail

Summary

• Symbol: Fras1^b2b3323Clo
• Name: Fraser extracellular matrix complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 3323Cecilia Lo
• MGI ID: MGI:5648214
• Gene: Fras1 Location: Chr5:96521814-96932587 bp, + strand Genetic Position: Chr5, 47.29 cM
• Alliance: Fras1^b2b3323Clo 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. The molecular lesion is a C to T substitution at coding nucleotide 1228 in exon 12 of the cDNA (c.1228C>T, NM_175473). This changes the glutamine residue to a translation stop at position 410 of the encoded protein (p.Q410*). (J:175213)

Expression

In Structures Affected by this Mutation:

3 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 Fras1 Mutation: 216 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: membranous ventricular septal defect

Noncardiovascular phenotype: Abnormal eyes, micrognathia, kidney agenesis, hindlimb digit anomalies

Phenotypic Similarity to Human Syndrome:
Fraser 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: 3 reference(s)