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Frem2b2b1562Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Frem2b2b1562Clo
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
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 detailsThis 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, Frem2b2b1562Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  92 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). 2011-15;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory