Foxj1^b2b774Clo
Chemically induced Allele Detail

Summary

• Symbol: Foxj1^b2b774Clo
• Name: forkhead box J1; Bench to Bassinet Program (B2B/CVDC), mutation 774 Cecilia Lo
• MGI ID: MGI:5297425
• Synonyms: Foxj1^T425A, Tails
• Gene: Foxj1 Location: Chr11:116221530-116226225 bp, - strand Genetic Position: Chr11, 81.16 cM
• Alliance: Foxj1^b2b774Clo page

Situs inversus totalis indicated by dextrocardia and dextrogastria

Show the 4 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 details: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Foxj1^b2b774Clo, and may be present in stocks carrying this mutation.

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 Foxj1 Mutation: 21 strains or lines available

Notes

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}

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). 2011-09-12
• All: 2 reference(s)