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Allele : Foxj1<b2b774Clo> forkhead box J1; Bench to Bassinet Program (B2B/CVDC), mutation 774 Cecilia Lo
Primary Identifier  MGI:5297425 Allele Type  Chemically induced (ENU)
Gene  Foxj1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Laterality defects: Situs inversus totalis and heterotaxy

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
0100 Situs inversus totalis
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
3974 {I,L,I}

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 425 in exon 2 of the cDNA (c.425T>A, NM_008240). This changes the isoleucine residue to asparagine at position 142 in the encoding protein (p.I142N).
  • mutations:
  • Single point mutation
  • synonyms:
  • Tails,
  • Tails,
  • Foxj1<T425A>,
  • Foxj1<T425A>
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1 Feature

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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