Anks6^b2b1801.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Anks6^b2b1801.1Clo
• Name: ankyrin repeat and sterile alpha motif domain containing 6; Bench to Bassinet Program (B2B/CVDC), mutation 1801, subline 1 Cecilia Lo
• MGI ID: MGI:5463579
• Synonyms: Anks6^Strkr, Streaker
• Gene: Anks6 Location: Chr4:47015669-47057427 bp, - strand Genetic Position: Chr4, 25.88 cM
• Alliance: Anks6^b2b1801.1Clo page

Mutant 1801-002-NA exhibits dextrocardia and dextrogastria with inverted liver lobation.

Show the 20 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 b2b1801Clo. The molecular lesion is a T to A substitution at coding nucleotide 560 in exon 2 of the cDNA (c.560T>A, NM_001024136). This changes the methionine residue to lysine at position 187 of the encoded protein (p.M187K). (J:175213)

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Anks6 Mutation: 84 strains or lines available

Notes

This mutation was derived from the parent line b2b1801Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Complex congenital heart defects associated with heterotaxy, such as transposition of the great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), right atrial isomerism with duplicated inferior vena cava (IVC), inverted hemiazygous venous connection with left sided hepatic vein connecting to the left side atrium, perimembranous ventricular septal defect (VSD), and inverted liver.
Noncardiac phenotype: situs inversus, right pulmonary isomerism, hemizygous venous connection

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 Descrtion
0600	double outlet right ventricle
0800	L-loop transpostion of the great arteries
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
0110	Dextrocardia
0190	Heterotaxy syndrome
1100	Atrioventricular canal (endocardial cushion defect)
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3950	{S,D,D}
3973	{I,L,L}
4240	Right bronchial isomerism
4447	Hepatic malformation

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: 4 reference(s)