Ndst1^b2b2230Clo
Chemically induced Allele Detail

Summary

• Symbol: Ndst1^b2b2230Clo
• Name: N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1; Bench to Bassinet Program (B2B/CVDC), mutation 2230 Cecilia Lo
• MGI ID: MGI:5491260
• Synonyms: Otto
• Gene: Ndst1 Location: Chr18:60817566-60881722 bp, - strand Genetic Position: Chr18, 34.38 cM, cytoband D2
• Alliance: Ndst1^b2b2230Clo page

Mutant 2230-003-1 (E16.5) exhibits mesocardia and hypoplastic thymus

Show the 18 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 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ndst1^b2b2230Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Ndst1 Mutation: 47 strains or lines available

Notes

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

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: 2 reference(s)