Dync2h1^b2b414Clo
Chemically induced Allele Detail

Nomenclature

• Symbol: Dync2h1^b2b414Clo
• Name: dynein cytoplasmic 2 heavy chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
• MGI ID: MGI:5311370
• Synonyms: Dync2h1^p.V234E, Lucifer
• Gene: Dync2h1 Location: Chr9:6928503-7184446 bp, - strand Genetic Position: Chr9, 2.46 cM

Pulmonary atresia with MAPCAs and duplicated IVC.

Show the 26 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 single point mutation at position 701 of the cDNA (c.T701A). This change is predicted to result in a valine to glutamate change at position 234 of the encoded protein (p.V234E). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dync2h1^b2b414Clo, and may be present in stocks carrying this mutation.

Disease models

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 Dync2h1 Mutation: 92 strains or lines available

Notes

Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

Phenotypic Similarity to Human Syndrome: VACTERL/VATER syndrome, pulmonary atresia with VSD and major aortopulmonary collateral arteries (MAPCA). Short rib-polydactyly syndrome. Jeune asphyxiating thoracic dystrophy.

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
0110	Dextrocardia
1081	Tetralogy of Fallot with pulmonary atresia and mapcas
1120	Complete common atrioventricular canal
1124	Balanced complete atrioventricular canal
1125	Unbalanced complete atrioventricular canal, left dominant
1140	Common atrium
2230	Coronary fistula (arterio-venous or arterio-cameral)
2810	Inferior vena cava anomaly
3100	Congenital coronary anomaly
3804	Congenital heart disease
3986	{A,D,S}
4044	VATERS/VACTERLS Syndrome
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4174	Syndactyly
4202	Tracheoesophageal fistula
4232	Airway malformation
4235	Pulmonary malformation
4338	Holoprosencephaly
4503	Agenesis of kidneys
4863	Opthalmic malformation
4874	Mouth 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). 2011-15
• All: 3 reference(s)