Frem2^b2b1562Clo
Chemically induced Allele Detail

Summary

• Symbol: Frem2^b2b1562Clo
• Name: Fras1 related extracellular matrix protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 1562 Cecilia Lo
• MGI ID: MGI:5429852
• Synonyms: Feather
• Gene: Frem2 Location: Chr3:53421359-53564776 bp, - strand Genetic Position: Chr3, 25.24 cM
• Alliance: Frem2^b2b1562Clo page

Mutant 1562-004-LA displays bilateral kidney agenesis

Show the 6 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 an A to G substitution at coding nucleotide 6875 in exon 11 of the cDNA (c.6875A>G, NM_172862). This changes the tyrosine residue to cysteine at position 2292 of the encoded protein (p.Y2292C). Additional incidental mutations were detected in sequencing for the causative mutation, Frem2^b2b1562Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Frem2 Mutation: 137 strains or lines available

Notes

Summative Diagnosis:
Noncardiac phenotype: Bilateral kidney agenesis, polydactly, syndactyly and malformed digits, eye defect/cryptophthalmos

Phenotypic Similarity to Human Syndrome: Fraser 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 Code ID	Code Description
4103	Polydactyly
4174	Syndactyly
4503	Agenesis of kidneys

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)