b2b1709Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1709Clo
• Name: Mutant line 1709; Bench to Bassinet Program (B2B/CVDC), mutation 1709 Cecilia Lo
• MGI ID: MGI:5438064
• Synonyms: Durante
• Gene: b2b1709Clo Location: unknown
• Alliance: b2b1709Clo page

Necropsy of 1709-003-MLA shows hypoplastic LV.

Show the 19 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: Undefined
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1709Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

7 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 b2b1709Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotype: Hypoplastic left ventricle (LV), small mitral valve, and ventricular septal defect (VSD), anomalous coronary connections and coronary fistulas, overriding aorta, hypoplastic transverse aorta with vascular ring
Noncardiac phenotype: holoprosencephaly, craniofacial dysplasia, anophthalmia, cyclopia, and microcephaly

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
0300	Hypoplastic left heart syndrome
1300	Ventricular septal defect
1432	Overriding aortic valve
1515	Hypoplastic mitral valve
1811	Hypoplastic left ventricle (subnormal cavity volume)
2230	Coronary fistula (arterio-venous or arterio-cameral)
2704	Aortic arch hypoplasia
2760	Vascular ring
4310	Microcephaly
4338	Holoprosencephaly
4864	Anophthalmia

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: 3 reference(s)