Frem2^b2b3270Clo
Chemically induced Allele Detail

Summary

• Symbol: Frem2^b2b3270Clo
• Name: Fras1 related extracellular matrix protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 3270 Cecilia Lo
• MGI ID: MGI:5618918
• Gene: Frem2 Location: Chr3:53421359-53564776 bp, - strand Genetic Position: Chr3, 25.24 cM
• Alliance: Frem2^b2b3270Clo page

EFIC Summary

Show the 5 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: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to G substitution at coding nucleotide 6739 in exon 11 of the cDNA (c.6739T>G, NM_172862). This changes the phenylanaline residue to valine at position 2247 of the encoded protein (p.F2247V). (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 Frem2 Mutation: 137 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: thickened aortic valves, right aortic arch

Noncardiovascular phenotype: diaphragmatic hernia, bilateral anopthalmia, micrognathia.

Phenotypic Similarity to Human Syndrome:
Fraser's syndrome

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes	Code Description
2720	Right aortic arch
4201	Diaphragmatic hernia
4864	Anophthalmia
4877	Microphthalmia

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)