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Allele : Frem2<b2b1562Clo> Fras1 related extracellular matrix protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 1562 Cecilia Lo
Primary Identifier  MGI:5429852 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:
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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Feather,
  • Feather
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Trail: Allele

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0 Mutation Involves

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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