Nat8f5^b2b1702.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Nat8f5^b2b1702.1Clo
• Name: N-acetyltransferase 8 (GCN5-related) family member 5; Bench to Bassinet Program (B2B/CVDC), mutation 1702, subline 1 Cecilia Lo
• MGI ID: MGI:5696519
• Synonyms: TLC
• Gene: Nat8f5 Location: Chr6:85794200-85797954 bp, - strand Genetic Position: Chr6, 37.48 cM, cytoband D1
• Alliance: Nat8f5^b2b1702.1Clo page

Mutant 1702-003-2 (E16.5) displays malaligned great arteries indicative of double outlet right ventricle (DORV) as confirmed by ECM imaging.

Show the 12 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. It is a subline of b2b1702Clo. The molecular lesion for this subline is an A to T substitution at coding nucleotide position 289 in exon 3 of the cDNA (c.289A>T, NM_023493). This changes the isoleucine residue to phenylalanine at position 97 in the encoded protein (p.I97F). (J:175213)

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Nat8f5 Mutation: 10 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Congenital heart disease associated with with heterotaxy, including dextrocardia, double outlet right ventricle (DORV), Taussig-Bing type DORV, muscular VSD (mVSD), atrioventricular septal defects (AVSD), and coronary fistula

Noncardiovascular phenotype: Dextrogastria, right lung isomerism, omphalocele, gastroschisis

Phenotypic Similarity to Human Syndrome:
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 Codes	Code Description
602	DORV, ventricular defect committed to aorta
110	Dextrocardia
1100	Atrioventricular canal (endocardial cushion defect)
1320	Ventricular septal defect, muscular
190	Heterotaxy Syndrome
2230	Coronary fistula (arterio-venous or arterio-cameral)
3804	Congenital heart disease
4404	Omphalocele
600	Double outlet right ventricle
610	DORV, Taussig bing

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: 1 reference(s)