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Foxh1b2b2662Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Foxh1b2b2662Clo
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
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 detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 22 anatomical structures
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:  27 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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory