|
|
| Nomenclature |
|
Symbol:
|
b2b1200Clo
|
|
Name:
|
Mutant line 1200;
Bench to Bassinet Program (B2B/CVDC), mutation 1200 Cecilia Lo
|
|
MGI ID: |
MGI:5437101 |
|
Synonyms: |
Bruiser |
|
Gene:
|
b2b1200Clo
Location:
unknown
|
|
Mutant 1200-003-NA shows dextroversion {S,D,S} with vascular ring
Show the 34 image(s) involving this allele.
|
 |
|
Mutation origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Undefined |
| |
|
Mutation details: 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 b2b1200.1Clo and b2b1200.2Clo. (J:175213)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
Notes |
Summative Diagnosis:
Mutant Type 1:
Cardiovascular defects: Heterotaxy with congenital heart disease such as dextroversion with hypoplastic right ventricle (RV), double outlet right ventricle (DORV), muscular and membranous ventricular septal defects, aortic arch anomalies including vascular ring
Non-cardiovascular defects: Duplex kidneys with cysts and hydronephrosis
Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Cystic kidney, duplex/multiplex kidney, and hydronephrosis
Phenotypic Similarity to Human Syndrome: Heterotaxy, Kartagener's syndrome, Primary ciliary dyskinesia, Polycystic kidney disease
|