Fuz^b2b1273Clo
Chemically induced Allele Detail

Summary

• Symbol: Fuz^b2b1273Clo
• Name: fuzzy planar cell polarity protein; Bench to Bassinet Program (B2B/CVDC), mutation 1273 Cecilia Lo
• MGI ID: MGI:5311392
• Synonyms: octomouse
• Gene: Fuz Location: Chr7:44545517-44552053 bp, + strand Genetic Position: Chr7, 28.99 cM, cytoband B2
• Alliance: Fuz^b2b1273Clo page

Pulmonary atresia, dual IVC and single left lung lobe seen in mutant 1273-002-1 (E16.5)

Show the 16 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 nucleotide +2 after coding nucleotide 387 (c.387+2T>A, NM_027376.3) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be much less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Fuz^b2b1273Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Fuz Mutation: 23 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defects: Pulmonary atresia, atrio-ventricular septal defects (AVSD), right aortic arch (RAA), vascular sling, and major aortopulmonary collarteral arteries (MAPCA).
Non-cardiovascular defects: central polydactyly, hypoplastic lung, liver isomerism, diaphragmatic hernia, short gut, tracheo-esophageal fistula (TEF)

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
1000	Pulmonary atresia congenital
1100	Atrioventricular canal (endocardial cushion defect)
2720	Right aortic arch
2771	Multiple major aortopulmonary collateral arteries (mapcas)
3804	Congenital heart disease
4202	Tracheoesophageal fistula
4103	Polydactyly
4400	Gastrointestinal anomaly
4447	Hepatic malformation
4864	Anophthalmia

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)