C57BL/6J-b2b370Clo/J

Stock number: 013616
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This undefined mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and development.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed description

This undefined b2b370Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate an abnormal right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries, supravalvular aortic stenosis (narrowed ascending aorta), thickened great artery walls, biventricular hypertrophy, and pulmonary branch stenosis. Proboscis, micrognathia, no mouth, holoposencephaly, and diaphragmatic hernia are also seen.

Development

This undefined mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

Allele

Symbol: b2b370Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 370 Cecilia Lo
MGI accession ID: MGI:5311366
Generation method: Chemically induced (ENU)
Synonyms: Kitty
Marker symbol: b2b370Clo
Marker name: Mutant line 370
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b370.1Clo and Lox^b2b370.2Clo
General note: Summative Diagnosis:
Different mutations causing two independently segregating phenotypes:
Mutant 1: Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries. Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly
Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality

Allele

Symbol: Lox^b2b370.2Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 2 Cecilia Lo
MGI accession ID: MGI:5313524
Generation method: Chemically induced (ENU)
Synonyms: Lox^{c.G854T/p.C285F}
Marker symbol: Lox
Marker name: lysyl oxidase
Marker synonyms: AAT10; H-rev142; ras recision gene (rrg); Rrg1; TSC-160
Chromosome: 18
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 854 in exon 3 of the cDNA (c.854G>T, NM_010728). This changes the cysteine residue to phenylalanine at position 285 of the encoded protein (p.C285F).
General note: This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis.
Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4907	Non-cardiac thoracic abnormality

Allele

Symbol: b2b370.1Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 1 Cecilia Lo
MGI accession ID: MGI:5313523
Generation method: Chemically induced (ENU)
Marker symbol: b2b370.1Clo
Marker name: Mutant line 370, subline 1
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo.
General note: This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries.
Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly

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
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3804	Congenital heart disease
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality