C57BL/6J-Ndst1^b2b2230Clo/J

Stock number: 018267
Research areas: Cardiovascular Research, Developmental Biology Research, Endocrine Deficiency Research, Internal/Organ Research, Sensorineural Research

Description

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

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 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 cardiovascular defects that involve persistent truncus arteriosus (PTA), aortic arch anomalies (interrupted aortic arch (IAA), right aortic arch (RAA), vascular ring), atrioventricular septal defect, and biventricular hypertrophy. Anophthalmia, anencephaly, agnathia with proboscis, low set ears, microstomia (otocephaly), hypoplastic thymus, kidney defects with hydronephrosis, kidney cysts, and omphalocoele are also seen.

Development

This 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: Ndst1^b2b2230Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2230 Cecilia Lo
MGI accession ID: MGI:5491260
Generation method: Chemically induced (ENU)
Marker symbol: Ndst1
Marker name: N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Chromosome: 18
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 2426 (c.2426+2T>A, NM_008306) in intron 12. This changes splice donor site C-GT to C-GA (which is assumed to be inactive).
General note: Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies (interrupted aortic arch (IAA), right aortic arch (RAA), vascular ring), atrioventricular septal defect, and biventricular hypertrophy
Noncardiovascular Phenotype: Anophthalmia, anencephaly, agnathia with proboscis, low set ears, microstomia (otocephaly), hypoplastic thymus, kidney defects with hydronephrosis, kidney cysts, omphalocoele

Phenotypic Similarity to Human Syndrome: DiGeorge syndrome, Otocephaly

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
0500	Truncus arteriosus
1250	Interrupted aortic arch
2700	Abnormal aortic arch
2720	Right aortic arch
2760	Vascular ring
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4404	Omphalocele
4502	Hydronephrosis
4610	DiGeorge syndrome
4864	Anophthalmia
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy