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Ndst1b2b2230Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ndst1b2b2230Clo
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: Chr18:60684494-60748650 bp, - strand  Genetic Position: Chr18, 34.38 cM, cytoband D2
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 detailsThis 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, Ndst1b2b2230Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
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:  4 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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory