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Allele : Cfc1<b2b970Clo> cryptic, EGF-CFC family member 1; Bench to Bassinet Program (B2B/CVDC) mutation 970, Cecilia Lo
Primary Identifier  MGI:5311378 Allele Type  Chemically induced (ENU)
Gene  Cfc1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Heterotaxy with defect phenotypes such as right pulmonary isomerism, dual inferior vena cavae (IVC), dextrogastria, and mesocardia with congenital heart disease: - transposition of the great arteries (TGA) and unbalanced atrio-ventricular septal defect (AVSD)
Non-Cardiovascular defects: Hypoplastic spleen

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
0190 Heterotaxy syndrome
0700 D-loop transposition of the great arteries
1132 Unbalanced complete common atrioventricular canal
3804 Congenital heart disease
3982 {A,D,D}

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a T to A substitution at coding nucleotide postition 68 in exon 2 of the cDNA (c.68T>A, Ref seq NM_007685). This changes the valine residue to glutamic acid at position 23 in the encoded protein (p.V23E).
  • mutations:
  • Single point mutation
  • synonyms:
  • Cfc1<c.T68A>,
  • LOL (lots o' lungs),
  • LOL (lots o' lungs),
  • Cfc1<c.T68A>
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Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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