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Allele : Frem2<b2b3270Clo> Fras1 related extracellular matrix protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 3270 Cecilia Lo
Primary Identifier  MGI:5618918 Allele Type  Chemically induced (ENU)
Gene  Frem2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories





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