C57BL/6J-Frem2^b2b1562Clo/J

Stock number: 018187
Research areas: Developmental Biology Research, Internal/Organ Research

Description

This Frem2 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of developmental.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed description

This A-to-G point mutation at position 6875 of the Frem2 (Fras1 related extracellular matrix protein 2) cDNA was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate a noncardiac phenotype that involves bilateral kidney agenesis, polydactly, syndactyly and malformed digits.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. An A-to-G single point mutation at position 6875 of the cDNA (c.A6875G, NM_172862) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a tyrosine to cysteine amino acid substitution at position 177 of the encoded protein (p.Y2292C).

Allele

Symbol: Frem2^b2b1562Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1562 Cecilia Lo
MGI accession ID: MGI:5429852
Generation method: Chemically induced (ENU)
Marker symbol: Frem2
Marker name: Fras1 related extracellular matrix protein 2
Chromosome: 3
Strain of origin: C57BL/6J
Molecular note: 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).
General note: 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