Foxh1^b2b2662Clo
Chemically induced Allele Detail

Summary

• Symbol: Foxh1^b2b2662Clo
• Name: forkhead box H1; Bench to Bassinet Program (B2B/CVDC), mutation 2662 Cecilia Lo
• MGI ID: MGI:5615244
• Gene: Foxh1 Location: Chr15:76552425-76554148 bp, - strand Genetic Position: Chr15, 36.24 cM
• Alliance: Foxh1^b2b2662Clo page

Mutant exhibits displaced outflow tracts which is diagnosed as double outlet single ventricle, right aortic arch, and aberrant right subclavian artery forming incomplete vascular ring by ECM imaging

Show the 24 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 an A to C substitution at coding nucleotide 1133 in exon 3 of the cDNA (c.1133A>C, NM_007989). This changes the aspartic acid residue to alanine at position 378 of the encoded protein (p.D378A). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

20 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 Foxh1 Mutation: 34 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Complex congenital heart disease associated with heterotaxy with right isomerism. Phenotypes observed include dextrocardia/mesocardia, double outlet right ventricle (A,L,L) with anterior placement of the aorta (DORV, Taussig-Bing subtype), right atrial isomerism, unbalanced atrioventricular septal defect (AVSD), double outlet primitive single ventricle, hypoplastic left ventricle (LV).

Noncardiovascular phenotype: Visceral organ situs defects including dextrogastria, right lung isomerism, intestinal malrotation, asplenia. Also observed are hypoplastic thymus, right side diaphragmatic hernia, malaligned sternal vertebra, and craniofacial defects including anencephaly, acrania, agnathia, microstima, microcephaly, low set ears, proboscis, cylcopia, and anophthalmia.

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
110	Dextrocardia
200	Single ventricle
102	Levocardia
1140	Common atrium
140	Mesocardia
1811	Hypoplastic left ventricle (subnormal cavity volume)
190	Heterotaxy Syndrome
1910	Asplenia Syndrome (Right Isomerism)
2700	Abnormal aortic arch
2720	Right aortic arch
2731	Aberrant right subclavian artery
2760	Vascular ring
2810	Inferior vena cava anomaly
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4134	Skull anomaly, congenital
4201	Diaphragmatic hernia
4240	Right bronchial isomerism
4332	Anencephaly
4407	Intestinal malrotation
4864	Anophthalmia
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
606	DORV + AVSD (AV canal)
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: 2 reference(s)